Canonical Allele Identifier: CA2003792937

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093016G= , CM000673.2:g.119093016G=	GRCh38
NC_000011.9:g.118963726G= , CM000673.1:g.118963726G=	GRCh37
NC_000011.8:g.118468936G=	NCBI36
NG_008093.1:g.13140G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.742G=	ENSP00000509288.1:p.Ala248=
ENST00000691144.1:n.3122G=
ENST00000691249.1:n.1731G=
ENST00000442944.7:c.889G=	ENSP00000392041.3:p.Ala297=
ENST00000640813.1:c.*144G=	ENSP00000491061.1:n.*144G=
ENST00000648026.1:c.801G=	ENSP00000498044.1:n.801G=
ENST00000648374.1:c.856G=	ENSP00000497255.1:p.Ala286=
ENST00000650101.1:c.838G=	ENSP00000496970.1:p.Ala280=
ENST00000650307.1:n.1733G=
ENST00000652429.1:c.907G= MANE Select	ENSP00000498786.1:p.Ala303=
ENST00000278715.7:c.907G=	ENSP00000278715.3:p.Ala303=
ENST00000392841.1:c.856G=	ENSP00000376584.1:p.Ala286=
ENST00000442944.6:c.856G=	ENSP00000392041.2:p.Ala286=
ENST00000537841.5:c.856G=	ENSP00000444730.1:p.Ala286=
ENST00000539045.1:n.406G=
ENST00000542044.5:n.1352G=
ENST00000542729.5:c.736G=	ENSP00000443058.1:p.Ala246=
ENST00000543090.5:c.814G=	ENSP00000445429.1:p.Ala272=
ENST00000543543.5:n.1382G=
ENST00000544182.1:n.1356G=
ENST00000544387.5:c.787G=	ENSP00000438424.1:p.Ala263=
ENST00000546226.5:n.1669G=
NM_000190.3:c.907G=	NP_000181.2:p.Ala303=
NM_001024382.1:c.856G=	NP_001019553.1:p.Ala286=
NM_001258208.1:c.787G=	NP_001245137.1:p.Ala263=
NM_001258209.1:c.736G=	NP_001245138.1:p.Ala246=
XM_005271531.1:c.856G=	XP_005271588.1:p.Ala286=
XM_005271532.1:c.856G=	XP_005271589.1:p.Ala286=
XM_005271533.2:c.853G=	XP_005271590.1:p.Ala285=
XM_011542796.1:c.742G=	XP_011541098.1:p.Ala248=
NM_000190.4:c.907G= MANE Select	NP_000181.2:p.Ala303=
NM_001024382.2:c.856G=	NP_001019553.1:p.Ala286=
XM_005271533.3:c.853G=	XP_005271590.1:p.Ala285=
XM_017017629.1:c.856G=	XP_016873118.1:p.Ala286=
XM_024448460.1:c.733G=	XP_024304228.1:p.Ala245=
NM_001258208.2:c.787G=	NP_001245137.1:p.Ala263=
NM_001258209.2:c.736G=	NP_001245138.1:p.Ala246=