Canonical Allele Identifier: CA382898534

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963521A>T (hg19) ; chr11:g.119092811A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092811A>T , CM000673.2:g.119092811A>T	GRCh38
NC_000011.9:g.118963521A>T , CM000673.1:g.118963521A>T	GRCh37
NC_000011.8:g.118468731A>T	NCBI36
NG_008093.1:g.12935A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.660A>T	ENSP00000509288.1:p.Gln220His
ENST00000691144.1:n.3040A>T
ENST00000691249.1:n.1649A>T
ENST00000442944.7:c.807A>T	ENSP00000392041.3:p.Gln269His
ENST00000640813.1:c.*62A>T	ENSP00000491061.1:n.*62A>T
ENST00000648026.1:c.719A>T	ENSP00000498044.1:n.719A>T
ENST00000648374.1:c.774A>T	ENSP00000497255.1:p.Gln258His
ENST00000649823.1:n.1282A>T
ENST00000650101.1:c.756A>T	ENSP00000496970.1:p.Gln252His
ENST00000650307.1:n.1651A>T
ENST00000652429.1:c.825A>T MANE Select	ENSP00000498786.1:p.Gln275His
ENST00000278715.7:c.825A>T	ENSP00000278715.3:p.Gln275His
ENST00000392841.1:c.774A>T	ENSP00000376584.1:p.Gln258His
ENST00000442944.6:c.774A>T	ENSP00000392041.2:p.Gln258His
ENST00000537841.5:c.774A>T	ENSP00000444730.1:p.Gln258His
ENST00000539045.1:n.201A>T
ENST00000542044.5:n.1270A>T
ENST00000542729.5:c.654A>T	ENSP00000443058.1:p.Gln218His
ENST00000543090.5:c.732A>T	ENSP00000445429.1:p.Gln244His
ENST00000543543.5:n.1300A>T
ENST00000544182.1:n.1274A>T
ENST00000544387.5:c.705A>T	ENSP00000438424.1:p.Gln235His
ENST00000546226.5:n.1587A>T
NM_000190.3:c.825A>T	NP_000181.2:p.Gln275His
NM_001024382.1:c.774A>T	NP_001019553.1:p.Gln258His
NM_001258208.1:c.705A>T	NP_001245137.1:p.Gln235His
NM_001258209.1:c.654A>T	NP_001245138.1:p.Gln218His
XM_005271531.1:c.774A>T	XP_005271588.1:p.Gln258His
XM_005271532.1:c.774A>T	XP_005271589.1:p.Gln258His
XM_005271533.2:c.771A>T	XP_005271590.1:p.Gln257His
XM_011542796.1:c.660A>T	XP_011541098.1:p.Gln220His
NM_000190.4:c.825A>T MANE Select	NP_000181.2:p.Gln275His
NM_001024382.2:c.774A>T	NP_001019553.1:p.Gln258His
XM_005271533.3:c.771A>T	XP_005271590.1:p.Gln257His
XM_017017629.1:c.774A>T	XP_016873118.1:p.Gln258His
XM_024448460.1:c.651A>T	XP_024304228.1:p.Gln217His
NM_001258208.2:c.705A>T	NP_001245137.1:p.Gln235His
NM_001258209.2:c.654A>T	NP_001245138.1:p.Gln218His