Canonical Allele Identifier: CA382898257

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963472G>C (hg19) ; chr11:g.119092762G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092762G>C , CM000673.2:g.119092762G>C	GRCh38
NC_000011.9:g.118963472G>C , CM000673.1:g.118963472G>C	GRCh37
NC_000011.8:g.118468682G>C	NCBI36
NG_008093.1:g.12886G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.611G>C	ENSP00000509288.1:p.Gly204Ala
ENST00000691144.1:n.2991G>C
ENST00000691249.1:n.1600G>C
ENST00000442944.7:c.758G>C	ENSP00000392041.3:p.Gly253Ala
ENST00000640813.1:c.*13G>C	ENSP00000491061.1:n.*13G>C
ENST00000648026.1:c.670G>C	ENSP00000498044.1:n.670G>C
ENST00000648374.1:c.725G>C	ENSP00000497255.1:p.Gly242Ala
ENST00000649823.1:n.1233G>C
ENST00000650101.1:c.707G>C	ENSP00000496970.1:p.Gly236Ala
ENST00000650307.1:n.1602G>C
ENST00000652429.1:c.776G>C MANE Select	ENSP00000498786.1:p.Gly259Ala
ENST00000278715.7:c.776G>C	ENSP00000278715.3:p.Gly259Ala
ENST00000392841.1:c.725G>C	ENSP00000376584.1:p.Gly242Ala
ENST00000442944.6:c.725G>C	ENSP00000392041.2:p.Gly242Ala
ENST00000537841.5:c.725G>C	ENSP00000444730.1:p.Gly242Ala
ENST00000539045.1:n.152G>C
ENST00000542044.5:n.1221G>C
ENST00000542729.5:c.605G>C	ENSP00000443058.1:p.Gly202Ala
ENST00000543090.5:c.683G>C	ENSP00000445429.1:p.Gly228Ala
ENST00000543543.5:n.1251G>C
ENST00000544182.1:n.1225G>C
ENST00000544387.5:c.656G>C	ENSP00000438424.1:p.Gly219Ala
ENST00000546226.5:n.1538G>C
NM_000190.3:c.776G>C	NP_000181.2:p.Gly259Ala
NM_001024382.1:c.725G>C	NP_001019553.1:p.Gly242Ala
NM_001258208.1:c.656G>C	NP_001245137.1:p.Gly219Ala
NM_001258209.1:c.605G>C	NP_001245138.1:p.Gly202Ala
XM_005271531.1:c.725G>C	XP_005271588.1:p.Gly242Ala
XM_005271532.1:c.725G>C	XP_005271589.1:p.Gly242Ala
XM_005271533.2:c.722G>C	XP_005271590.1:p.Gly241Ala
XM_011542796.1:c.611G>C	XP_011541098.1:p.Gly204Ala
NM_000190.4:c.776G>C MANE Select	NP_000181.2:p.Gly259Ala
NM_001024382.2:c.725G>C	NP_001019553.1:p.Gly242Ala
XM_005271533.3:c.722G>C	XP_005271590.1:p.Gly241Ala
XM_017017629.1:c.725G>C	XP_016873118.1:p.Gly242Ala
XM_024448460.1:c.602G>C	XP_024304228.1:p.Gly201Ala
NM_001258208.2:c.656G>C	NP_001245137.1:p.Gly219Ala
NM_001258209.2:c.605G>C	NP_001245138.1:p.Gly202Ala