Canonical Allele Identifier: CA6314009

Gene: HMBS

Linked Data

• ClinVar Variation Id: 752730
• ClinVar RCV Id: RCV000929894
• dbSNP Id: rs766937043
• ExAC: 11:118960411 C / T
• gnomAD v2: 11-118960411-C-T
• gnomAD v4: 11-119089701-C-T
• MyVariant Identifiers: chr11:g.118960411C>T (hg19) ; chr11:g.119089701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089701C>T , CM000673.2:g.119089701C>T	GRCh38
NC_000011.9:g.118960411C>T , CM000673.1:g.118960411C>T	GRCh37
NC_000011.8:g.118465621C>T	NCBI36
NG_008093.1:g.9825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.120C>T	ENSP00000509288.1:p.His40=
ENST00000686690.1:n.906C>T
ENST00000691144.1:n.2026C>T
ENST00000691249.1:n.869C>T
ENST00000442944.7:c.267C>T	ENSP00000392041.3:p.His89=
ENST00000534956.2:n.234C>T
ENST00000536813.6:c.234C>T	ENSP00000438726.2:p.His78=
ENST00000546302.6:c.267-289C>T	ENSP00000445599.1:n.267-289C>T
ENST00000640813.1:c.234C>T	ENSP00000491061.1:p.His78=
ENST00000648026.1:c.279C>T	ENSP00000498044.1:p.His93=
ENST00000648374.1:c.234C>T	ENSP00000497255.1:p.His78=
ENST00000648488.1:c.234C>T	ENSP00000498079.1:p.His78=
ENST00000649823.1:n.502C>T
ENST00000649868.1:c.140C>T	ENSP00000497548.1:p.Thr47Ile
ENST00000650101.1:c.216C>T	ENSP00000496970.1:p.His72=
ENST00000650307.1:n.1111C>T
ENST00000652429.1:c.285C>T MANE Select	ENSP00000498786.1:p.His95=
ENST00000278715.7:c.285C>T	ENSP00000278715.3:p.His95=
ENST00000392841.1:c.234C>T	ENSP00000376584.1:p.His78=
ENST00000442944.6:c.234C>T	ENSP00000392041.2:p.His78=
ENST00000534956.1:n.201C>T
ENST00000535253.5:c.234C>T	ENSP00000442079.1:p.His78=
ENST00000535793.5:c.*180C>T	ENSP00000439904.1:n.*180C>T
ENST00000536185.5:n.403C>T
ENST00000536813.5:c.267C>T	ENSP00000438726.1:p.His89=
ENST00000537841.5:c.234C>T	ENSP00000444730.1:p.His78=
ENST00000539986.5:c.234C>T	ENSP00000440092.1:p.His78=
ENST00000542044.5:n.730C>T
ENST00000542345.5:n.423C>T
ENST00000542729.5:c.234C>T	ENSP00000443058.1:p.His78=
ENST00000542822.5:c.*221C>T	ENSP00000444817.1:n.*221C>T
ENST00000543090.5:c.231C>T	ENSP00000445429.1:p.His77=
ENST00000543543.5:n.520C>T
ENST00000543821.5:n.431C>T
ENST00000544360.5:n.253C>T
ENST00000544387.5:c.285C>T	ENSP00000438424.1:p.His95=
ENST00000545621.5:c.*180C>T	ENSP00000444849.1:n.*180C>T
ENST00000546226.5:n.344C>T
ENST00000546302.5:c.267-289C>T	ENSP00000445599.1:n.267-289C>T
NM_000190.3:c.285C>T	NP_000181.2:p.His95=
NM_001024382.1:c.234C>T	NP_001019553.1:p.His78=
NM_001258208.1:c.285C>T	NP_001245137.1:p.His95=
NM_001258209.1:c.234C>T	NP_001245138.1:p.His78=
XM_005271531.1:c.234C>T	XP_005271588.1:p.His78=
XM_005271532.1:c.234C>T	XP_005271589.1:p.His78=
XM_005271533.2:c.231C>T	XP_005271590.1:p.His77=
XM_011542796.1:c.120C>T	XP_011541098.1:p.His40=
NM_000190.4:c.285C>T MANE Select	NP_000181.2:p.His95=
NM_001024382.2:c.234C>T	NP_001019553.1:p.His78=
XM_005271533.3:c.231C>T	XP_005271590.1:p.His77=
XM_017017629.1:c.234C>T	XP_016873118.1:p.His78=
XM_024448460.1:c.231C>T	XP_024304228.1:p.His77=
NM_001258208.2:c.285C>T	NP_001245137.1:p.His95=
NM_001258209.2:c.234C>T	NP_001245138.1:p.His78=