Canonical Allele Identifier: CA382898695

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963657G>C (hg19) ; chr11:g.119092947G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092947G>C , CM000673.2:g.119092947G>C	GRCh38
NC_000011.9:g.118963657G>C , CM000673.1:g.118963657G>C	GRCh37
NC_000011.8:g.118468867G>C	NCBI36
NG_008093.1:g.13071G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.673G>C	ENSP00000509288.1:p.Gly225Arg
ENST00000691144.1:n.3053G>C
ENST00000691249.1:n.1662G>C
ENST00000442944.7:c.820G>C	ENSP00000392041.3:p.Gly274Arg
ENST00000640813.1:c.*75G>C	ENSP00000491061.1:n.*75G>C
ENST00000648026.1:c.732G>C	ENSP00000498044.1:n.732G>C
ENST00000648374.1:c.787G>C	ENSP00000497255.1:p.Gly263Arg
ENST00000649823.1:n.1295G>C
ENST00000650101.1:c.769G>C	ENSP00000496970.1:p.Gly257Arg
ENST00000650307.1:n.1664G>C
ENST00000652429.1:c.838G>C MANE Select	ENSP00000498786.1:p.Gly280Arg
ENST00000278715.7:c.838G>C	ENSP00000278715.3:p.Gly280Arg
ENST00000392841.1:c.787G>C	ENSP00000376584.1:p.Gly263Arg
ENST00000442944.6:c.787G>C	ENSP00000392041.2:p.Gly263Arg
ENST00000537841.5:c.787G>C	ENSP00000444730.1:p.Gly263Arg
ENST00000539045.1:n.337G>C
ENST00000542044.5:n.1283G>C
ENST00000542729.5:c.667G>C	ENSP00000443058.1:p.Gly223Arg
ENST00000543090.5:c.745G>C	ENSP00000445429.1:p.Gly249Arg
ENST00000543543.5:n.1313G>C
ENST00000544182.1:n.1287G>C
ENST00000544387.5:c.718G>C	ENSP00000438424.1:p.Gly240Arg
ENST00000546226.5:n.1600G>C
NM_000190.3:c.838G>C	NP_000181.2:p.Gly280Arg
NM_001024382.1:c.787G>C	NP_001019553.1:p.Gly263Arg
NM_001258208.1:c.718G>C	NP_001245137.1:p.Gly240Arg
NM_001258209.1:c.667G>C	NP_001245138.1:p.Gly223Arg
XM_005271531.1:c.787G>C	XP_005271588.1:p.Gly263Arg
XM_005271532.1:c.787G>C	XP_005271589.1:p.Gly263Arg
XM_005271533.2:c.784G>C	XP_005271590.1:p.Gly262Arg
XM_011542796.1:c.673G>C	XP_011541098.1:p.Gly225Arg
NM_000190.4:c.838G>C MANE Select	NP_000181.2:p.Gly280Arg
NM_001024382.2:c.787G>C	NP_001019553.1:p.Gly263Arg
XM_005271533.3:c.784G>C	XP_005271590.1:p.Gly262Arg
XM_017017629.1:c.787G>C	XP_016873118.1:p.Gly263Arg
XM_024448460.1:c.664G>C	XP_024304228.1:p.Gly222Arg
NM_001258208.2:c.718G>C	NP_001245137.1:p.Gly240Arg
NM_001258209.2:c.667G>C	NP_001245138.1:p.Gly223Arg