Canonical Allele Identifier: CA477128928

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963224G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092514G>T , CM000673.2:g.119092514G>T	GRCh38
NC_000011.9:g.118963224G>T , CM000673.1:g.118963224G>T	GRCh37
NC_000011.8:g.118468434G>T	NCBI36
NG_008093.1:g.12638G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.597G>T	ENSP00000509288.1:p.Leu199=
ENST00000691144.1:n.2743G>T
ENST00000691249.1:n.1586G>T
ENST00000442944.7:c.744G>T	ENSP00000392041.3:p.Leu248=
ENST00000640813.1:c.572G>T	ENSP00000491061.1:p.Ter191Leu
ENST00000648026.1:c.656G>T	ENSP00000498044.1:p.Ter219Leu
ENST00000648374.1:c.711G>T	ENSP00000497255.1:p.Leu237=
ENST00000649823.1:n.1219G>T
ENST00000650101.1:c.693G>T	ENSP00000496970.1:p.Leu231=
ENST00000650307.1:n.1588G>T
ENST00000652429.1:c.762G>T MANE Select	ENSP00000498786.1:p.Leu254=
ENST00000278715.7:c.762G>T	ENSP00000278715.3:p.Leu254=
ENST00000392841.1:c.711G>T	ENSP00000376584.1:p.Leu237=
ENST00000442944.6:c.711G>T	ENSP00000392041.2:p.Leu237=
ENST00000537841.5:c.711G>T	ENSP00000444730.1:p.Leu237=
ENST00000542044.5:n.1207G>T
ENST00000542729.5:c.601-244G>T	ENSP00000443058.1:n.601-244G>T
ENST00000543090.5:c.669G>T	ENSP00000445429.1:p.Leu223=
ENST00000543543.5:n.1237G>T
ENST00000544182.1:n.977G>T
ENST00000544387.5:c.652-244G>T	ENSP00000438424.1:n.652-244G>T
ENST00000546226.5:n.1290G>T
NM_000190.3:c.762G>T	NP_000181.2:p.Leu254=
NM_001024382.1:c.711G>T	NP_001019553.1:p.Leu237=
NM_001258208.1:c.652-244G>T	NP_001245137.1:n.652-244G>T
NM_001258209.1:c.601-244G>T	NP_001245138.1:n.601-244G>T
XM_005271531.1:c.711G>T	XP_005271588.1:p.Leu237=
XM_005271532.1:c.711G>T	XP_005271589.1:p.Leu237=
XM_005271533.2:c.708G>T	XP_005271590.1:p.Leu236=
XM_011542796.1:c.597G>T	XP_011541098.1:p.Leu199=
NM_000190.4:c.762G>T MANE Select	NP_000181.2:p.Leu254=
NM_001024382.2:c.711G>T	NP_001019553.1:p.Leu237=
XM_005271533.3:c.708G>T	XP_005271590.1:p.Leu236=
XM_017017629.1:c.711G>T	XP_016873118.1:p.Leu237=
XM_024448460.1:c.598-244G>T	XP_024304228.1:n.598-244G>T
NM_001258208.2:c.652-244G>T	NP_001245137.1:n.652-244G>T
NM_001258209.2:c.601-244G>T	NP_001245138.1:n.601-244G>T