Canonical Allele Identifier: CA229596416

Gene: HMBS

Linked Data

• dbSNP Id: rs1020145031
• gnomAD v4: 11-119092517-G-C
• MyVariant Identifiers: chr11:g.118963227G>C (hg19) ; chr11:g.119092517G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092517G>C , CM000673.2:g.119092517G>C	GRCh38
NC_000011.9:g.118963227G>C , CM000673.1:g.118963227G>C	GRCh37
NC_000011.8:g.118468437G>C	NCBI36
NG_008093.1:g.12641G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.600G>C	ENSP00000509288.1:p.Arg200Ser
ENST00000691144.1:n.2746G>C
ENST00000691249.1:n.1589G>C
ENST00000442944.7:c.747G>C	ENSP00000392041.3:p.Arg249Ser
ENST00000640813.1:c.*2G>C	ENSP00000491061.1:n.*2G>C
ENST00000648026.1:c.659G>C	ENSP00000498044.1:n.659G>C
ENST00000648374.1:c.714G>C	ENSP00000497255.1:p.Arg238Ser
ENST00000649823.1:n.1222G>C
ENST00000650101.1:c.696G>C	ENSP00000496970.1:p.Arg232Ser
ENST00000650307.1:n.1591G>C
ENST00000652429.1:c.765G>C MANE Select	ENSP00000498786.1:p.Arg255Ser
ENST00000278715.7:c.765G>C	ENSP00000278715.3:p.Arg255Ser
ENST00000392841.1:c.714G>C	ENSP00000376584.1:p.Arg238Ser
ENST00000442944.6:c.714G>C	ENSP00000392041.2:p.Arg238Ser
ENST00000537841.5:c.714G>C	ENSP00000444730.1:p.Arg238Ser
ENST00000542044.5:n.1210G>C
ENST00000542729.5:c.601-241G>C	ENSP00000443058.1:n.601-241G>C
ENST00000543090.5:c.672G>C	ENSP00000445429.1:p.Arg224Ser
ENST00000543543.5:n.1240G>C
ENST00000544182.1:n.980G>C
ENST00000544387.5:c.652-241G>C	ENSP00000438424.1:n.652-241G>C
ENST00000546226.5:n.1293G>C
NM_000190.3:c.765G>C	NP_000181.2:p.Arg255Ser
NM_001024382.1:c.714G>C	NP_001019553.1:p.Arg238Ser
NM_001258208.1:c.652-241G>C	NP_001245137.1:n.652-241G>C
NM_001258209.1:c.601-241G>C	NP_001245138.1:n.601-241G>C
XM_005271531.1:c.714G>C	XP_005271588.1:p.Arg238Ser
XM_005271532.1:c.714G>C	XP_005271589.1:p.Arg238Ser
XM_005271533.2:c.711G>C	XP_005271590.1:p.Arg237Ser
XM_011542796.1:c.600G>C	XP_011541098.1:p.Arg200Ser
NM_000190.4:c.765G>C MANE Select	NP_000181.2:p.Arg255Ser
NM_001024382.2:c.714G>C	NP_001019553.1:p.Arg238Ser
XM_005271533.3:c.711G>C	XP_005271590.1:p.Arg237Ser
XM_017017629.1:c.714G>C	XP_016873118.1:p.Arg238Ser
XM_024448460.1:c.598-241G>C	XP_024304228.1:n.598-241G>C
NM_001258208.2:c.652-241G>C	NP_001245137.1:n.652-241G>C
NM_001258209.2:c.601-241G>C	NP_001245138.1:n.601-241G>C