Canonical Allele Identifier: CA477128800

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963213A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092503A>C , CM000673.2:g.119092503A>C	GRCh38
NC_000011.9:g.118963213A>C , CM000673.1:g.118963213A>C	GRCh37
NC_000011.8:g.118468423A>C	NCBI36
NG_008093.1:g.12627A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.586A>C	ENSP00000509288.1:p.Arg196=
ENST00000691144.1:n.2732A>C
ENST00000691249.1:n.1575A>C
ENST00000442944.7:c.733A>C	ENSP00000392041.3:p.Arg245=
ENST00000640813.1:c.561A>C	ENSP00000491061.1:p.Lys187Asn
ENST00000648026.1:c.645A>C	ENSP00000498044.1:p.Lys215Asn
ENST00000648374.1:c.700A>C	ENSP00000497255.1:p.Arg234=
ENST00000649823.1:n.1208A>C
ENST00000650101.1:c.682A>C	ENSP00000496970.1:p.Arg228=
ENST00000650307.1:n.1577A>C
ENST00000652429.1:c.751A>C MANE Select	ENSP00000498786.1:p.Arg251=
ENST00000278715.7:c.751A>C	ENSP00000278715.3:p.Arg251=
ENST00000392841.1:c.700A>C	ENSP00000376584.1:p.Arg234=
ENST00000442944.6:c.700A>C	ENSP00000392041.2:p.Arg234=
ENST00000537841.5:c.700A>C	ENSP00000444730.1:p.Arg234=
ENST00000542044.5:n.1196A>C
ENST00000542729.5:c.601-255A>C	ENSP00000443058.1:n.601-255A>C
ENST00000543090.5:c.658A>C	ENSP00000445429.1:p.Arg220=
ENST00000543543.5:n.1226A>C
ENST00000544182.1:n.966A>C
ENST00000544387.5:c.652-255A>C	ENSP00000438424.1:n.652-255A>C
ENST00000546226.5:n.1279A>C
NM_000190.3:c.751A>C	NP_000181.2:p.Arg251=
NM_001024382.1:c.700A>C	NP_001019553.1:p.Arg234=
NM_001258208.1:c.652-255A>C	NP_001245137.1:n.652-255A>C
NM_001258209.1:c.601-255A>C	NP_001245138.1:n.601-255A>C
XM_005271531.1:c.700A>C	XP_005271588.1:p.Arg234=
XM_005271532.1:c.700A>C	XP_005271589.1:p.Arg234=
XM_005271533.2:c.697A>C	XP_005271590.1:p.Arg233=
XM_011542796.1:c.586A>C	XP_011541098.1:p.Arg196=
NM_000190.4:c.751A>C MANE Select	NP_000181.2:p.Arg251=
NM_001024382.2:c.700A>C	NP_001019553.1:p.Arg234=
XM_005271533.3:c.697A>C	XP_005271590.1:p.Arg233=
XM_017017629.1:c.700A>C	XP_016873118.1:p.Arg234=
XM_024448460.1:c.598-255A>C	XP_024304228.1:n.598-255A>C
NM_001258208.2:c.652-255A>C	NP_001245137.1:n.652-255A>C
NM_001258209.2:c.601-255A>C	NP_001245138.1:n.601-255A>C