Canonical Allele Identifier: CA477369345

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963921G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093211G>A , CM000673.2:g.119093211G>A	GRCh38
NC_000011.9:g.118963921G>A , CM000673.1:g.118963921G>A	GRCh37
NC_000011.8:g.118469131G>A	NCBI36
NG_008093.1:g.13335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.849G>A	ENSP00000509288.1:p.Leu283=
ENST00000691144.1:n.3229G>A
ENST00000691249.1:n.1838G>A
ENST00000442944.7:c.996G>A	ENSP00000392041.3:p.Leu332=
ENST00000640813.1:c.*251G>A	ENSP00000491061.1:n.*251G>A
ENST00000648026.1:c.908G>A	ENSP00000498044.1:n.908G>A
ENST00000648374.1:c.963G>A	ENSP00000497255.1:p.Leu321=
ENST00000650101.1:c.945G>A	ENSP00000496970.1:p.Leu315=
ENST00000650307.1:n.1840G>A
ENST00000652429.1:c.1014G>A MANE Select	ENSP00000498786.1:p.Leu338=
ENST00000278715.7:c.1014G>A	ENSP00000278715.3:p.Leu338=
ENST00000392841.1:c.963G>A	ENSP00000376584.1:p.Leu321=
ENST00000442944.6:c.963G>A	ENSP00000392041.2:p.Leu321=
ENST00000537841.5:c.963G>A	ENSP00000444730.1:p.Leu321=
ENST00000539045.1:n.513G>A
ENST00000542044.5:n.1459G>A
ENST00000542729.5:c.843G>A	ENSP00000443058.1:p.Leu281=
ENST00000543090.5:c.921G>A	ENSP00000445429.1:p.Leu307=
ENST00000543543.5:n.1489G>A
ENST00000544182.1:n.1463G>A
ENST00000544387.5:c.894G>A	ENSP00000438424.1:p.Leu298=
ENST00000546226.5:n.1776G>A
NM_000190.3:c.1014G>A	NP_000181.2:p.Leu338=
NM_001024382.1:c.963G>A	NP_001019553.1:p.Leu321=
NM_001258208.1:c.894G>A	NP_001245137.1:p.Leu298=
NM_001258209.1:c.843G>A	NP_001245138.1:p.Leu281=
XM_005271531.1:c.963G>A	XP_005271588.1:p.Leu321=
XM_005271532.1:c.963G>A	XP_005271589.1:p.Leu321=
XM_005271533.2:c.960G>A	XP_005271590.1:p.Leu320=
XM_011542796.1:c.849G>A	XP_011541098.1:p.Leu283=
NM_000190.4:c.1014G>A MANE Select	NP_000181.2:p.Leu338=
NM_001024382.2:c.963G>A	NP_001019553.1:p.Leu321=
XM_005271533.3:c.960G>A	XP_005271590.1:p.Leu320=
XM_017017629.1:c.963G>A	XP_016873118.1:p.Leu321=
XM_024448460.1:c.840G>A	XP_024304228.1:p.Leu280=
NM_001258208.2:c.894G>A	NP_001245137.1:p.Leu298=
NM_001258209.2:c.843G>A	NP_001245138.1:p.Leu281=