Canonical Allele Identifier: CA382897968

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1691435
• ClinVar RCV Id: RCV002254508
• dbSNP Id: rs118204113
• MyVariant Identifiers: chr11:g.118963216G>C (hg19) ; chr11:g.119092506G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092506G>C , CM000673.2:g.119092506G>C	GRCh38
NC_000011.9:g.118963216G>C , CM000673.1:g.118963216G>C	GRCh37
NC_000011.8:g.118468426G>C	NCBI36
NG_008093.1:g.12630G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.589G>C	ENSP00000509288.1:p.Ala197Pro
ENST00000691144.1:n.2735G>C
ENST00000691249.1:n.1578G>C
ENST00000442944.7:c.736G>C	ENSP00000392041.3:p.Ala246Pro
ENST00000640813.1:c.564G>C	ENSP00000491061.1:p.Gly188=
ENST00000648026.1:c.648G>C	ENSP00000498044.1:p.Gly216=
ENST00000648374.1:c.703G>C	ENSP00000497255.1:p.Ala235Pro
ENST00000649823.1:n.1211G>C
ENST00000650101.1:c.685G>C	ENSP00000496970.1:p.Ala229Pro
ENST00000650307.1:n.1580G>C
ENST00000652429.1:c.754G>C MANE Select	ENSP00000498786.1:p.Ala252Pro
ENST00000278715.7:c.754G>C	ENSP00000278715.3:p.Ala252Pro
ENST00000392841.1:c.703G>C	ENSP00000376584.1:p.Ala235Pro
ENST00000442944.6:c.703G>C	ENSP00000392041.2:p.Ala235Pro
ENST00000537841.5:c.703G>C	ENSP00000444730.1:p.Ala235Pro
ENST00000542044.5:n.1199G>C
ENST00000542729.5:c.601-252G>C	ENSP00000443058.1:n.601-252G>C
ENST00000543090.5:c.661G>C	ENSP00000445429.1:p.Ala221Pro
ENST00000543543.5:n.1229G>C
ENST00000544182.1:n.969G>C
ENST00000544387.5:c.652-252G>C	ENSP00000438424.1:n.652-252G>C
ENST00000546226.5:n.1282G>C
NM_000190.3:c.754G>C	NP_000181.2:p.Ala252Pro
NM_001024382.1:c.703G>C	NP_001019553.1:p.Ala235Pro
NM_001258208.1:c.652-252G>C	NP_001245137.1:n.652-252G>C
NM_001258209.1:c.601-252G>C	NP_001245138.1:n.601-252G>C
XM_005271531.1:c.703G>C	XP_005271588.1:p.Ala235Pro
XM_005271532.1:c.703G>C	XP_005271589.1:p.Ala235Pro
XM_005271533.2:c.700G>C	XP_005271590.1:p.Ala234Pro
XM_011542796.1:c.589G>C	XP_011541098.1:p.Ala197Pro
NM_000190.4:c.754G>C MANE Select	NP_000181.2:p.Ala252Pro
NM_001024382.2:c.703G>C	NP_001019553.1:p.Ala235Pro
XM_005271533.3:c.700G>C	XP_005271590.1:p.Ala234Pro
XM_017017629.1:c.703G>C	XP_016873118.1:p.Ala235Pro
XM_024448460.1:c.598-252G>C	XP_024304228.1:n.598-252G>C
NM_001258208.2:c.652-252G>C	NP_001245137.1:n.652-252G>C
NM_001258209.2:c.601-252G>C	NP_001245138.1:n.601-252G>C