Canonical Allele Identifier: CA477129268

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963476C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092766C>T , CM000673.2:g.119092766C>T	GRCh38
NC_000011.9:g.118963476C>T , CM000673.1:g.118963476C>T	GRCh37
NC_000011.8:g.118468686C>T	NCBI36
NG_008093.1:g.12890C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.615C>T	ENSP00000509288.1:p.Gly205=
ENST00000691144.1:n.2995C>T
ENST00000691249.1:n.1604C>T
ENST00000442944.7:c.762C>T	ENSP00000392041.3:p.Gly254=
ENST00000640813.1:c.*17C>T	ENSP00000491061.1:n.*17C>T
ENST00000648026.1:c.674C>T	ENSP00000498044.1:n.674C>T
ENST00000648374.1:c.729C>T	ENSP00000497255.1:p.Gly243=
ENST00000649823.1:n.1237C>T
ENST00000650101.1:c.711C>T	ENSP00000496970.1:p.Gly237=
ENST00000650307.1:n.1606C>T
ENST00000652429.1:c.780C>T MANE Select	ENSP00000498786.1:p.Gly260=
ENST00000278715.7:c.780C>T	ENSP00000278715.3:p.Gly260=
ENST00000392841.1:c.729C>T	ENSP00000376584.1:p.Gly243=
ENST00000442944.6:c.729C>T	ENSP00000392041.2:p.Gly243=
ENST00000537841.5:c.729C>T	ENSP00000444730.1:p.Gly243=
ENST00000539045.1:n.156C>T
ENST00000542044.5:n.1225C>T
ENST00000542729.5:c.609C>T	ENSP00000443058.1:p.Gly203=
ENST00000543090.5:c.687C>T	ENSP00000445429.1:p.Gly229=
ENST00000543543.5:n.1255C>T
ENST00000544182.1:n.1229C>T
ENST00000544387.5:c.660C>T	ENSP00000438424.1:p.Gly220=
ENST00000546226.5:n.1542C>T
NM_000190.3:c.780C>T	NP_000181.2:p.Gly260=
NM_001024382.1:c.729C>T	NP_001019553.1:p.Gly243=
NM_001258208.1:c.660C>T	NP_001245137.1:p.Gly220=
NM_001258209.1:c.609C>T	NP_001245138.1:p.Gly203=
XM_005271531.1:c.729C>T	XP_005271588.1:p.Gly243=
XM_005271532.1:c.729C>T	XP_005271589.1:p.Gly243=
XM_005271533.2:c.726C>T	XP_005271590.1:p.Gly242=
XM_011542796.1:c.615C>T	XP_011541098.1:p.Gly205=
NM_000190.4:c.780C>T MANE Select	NP_000181.2:p.Gly260=
NM_001024382.2:c.729C>T	NP_001019553.1:p.Gly243=
XM_005271533.3:c.726C>T	XP_005271590.1:p.Gly242=
XM_017017629.1:c.729C>T	XP_016873118.1:p.Gly243=
XM_024448460.1:c.606C>T	XP_024304228.1:p.Gly202=
NM_001258208.2:c.660C>T	NP_001245137.1:p.Gly220=
NM_001258209.2:c.609C>T	NP_001245138.1:p.Gly203=