Canonical Allele Identifier: CA2003792848

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092994G= , CM000673.2:g.119092994G=	GRCh38
NC_000011.9:g.118963704G= , CM000673.1:g.118963704G=	GRCh37
NC_000011.8:g.118468914G=	NCBI36
NG_008093.1:g.13118G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.720G=	ENSP00000509288.1:p.Met240=
ENST00000691144.1:n.3100G=
ENST00000691249.1:n.1709G=
ENST00000442944.7:c.867G=	ENSP00000392041.3:p.Met289=
ENST00000640813.1:c.*122G=	ENSP00000491061.1:n.*122G=
ENST00000648026.1:c.779G=	ENSP00000498044.1:n.779G=
ENST00000648374.1:c.834G=	ENSP00000497255.1:p.Met278=
ENST00000650101.1:c.816G=	ENSP00000496970.1:p.Met272=
ENST00000650307.1:n.1711G=
ENST00000652429.1:c.885G= MANE Select	ENSP00000498786.1:p.Met295=
ENST00000278715.7:c.885G=	ENSP00000278715.3:p.Met295=
ENST00000392841.1:c.834G=	ENSP00000376584.1:p.Met278=
ENST00000442944.6:c.834G=	ENSP00000392041.2:p.Met278=
ENST00000537841.5:c.834G=	ENSP00000444730.1:p.Met278=
ENST00000539045.1:n.384G=
ENST00000542044.5:n.1330G=
ENST00000542729.5:c.714G=	ENSP00000443058.1:p.Met238=
ENST00000543090.5:c.792G=	ENSP00000445429.1:p.Met264=
ENST00000543543.5:n.1360G=
ENST00000544182.1:n.1334G=
ENST00000544387.5:c.765G=	ENSP00000438424.1:p.Met255=
ENST00000546226.5:n.1647G=
NM_000190.3:c.885G=	NP_000181.2:p.Met295=
NM_001024382.1:c.834G=	NP_001019553.1:p.Met278=
NM_001258208.1:c.765G=	NP_001245137.1:p.Met255=
NM_001258209.1:c.714G=	NP_001245138.1:p.Met238=
XM_005271531.1:c.834G=	XP_005271588.1:p.Met278=
XM_005271532.1:c.834G=	XP_005271589.1:p.Met278=
XM_005271533.2:c.831G=	XP_005271590.1:p.Met277=
XM_011542796.1:c.720G=	XP_011541098.1:p.Met240=
NM_000190.4:c.885G= MANE Select	NP_000181.2:p.Met295=
NM_001024382.2:c.834G=	NP_001019553.1:p.Met278=
XM_005271533.3:c.831G=	XP_005271590.1:p.Met277=
XM_017017629.1:c.834G=	XP_016873118.1:p.Met278=
XM_024448460.1:c.711G=	XP_024304228.1:p.Met237=
NM_001258208.2:c.765G=	NP_001245137.1:p.Met255=
NM_001258209.2:c.714G=	NP_001245138.1:p.Met238=