Canonical Allele Identifier: CA382898890

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963702A>T (hg19) ; chr11:g.119092992A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092992A>T , CM000673.2:g.119092992A>T	GRCh38
NC_000011.9:g.118963702A>T , CM000673.1:g.118963702A>T	GRCh37
NC_000011.8:g.118468912A>T	NCBI36
NG_008093.1:g.13116A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.718A>T	ENSP00000509288.1:p.Met240Leu
ENST00000691144.1:n.3098A>T
ENST00000691249.1:n.1707A>T
ENST00000442944.7:c.865A>T	ENSP00000392041.3:p.Met289Leu
ENST00000640813.1:c.*120A>T	ENSP00000491061.1:n.*120A>T
ENST00000648026.1:c.777A>T	ENSP00000498044.1:n.777A>T
ENST00000648374.1:c.832A>T	ENSP00000497255.1:p.Met278Leu
ENST00000650101.1:c.814A>T	ENSP00000496970.1:p.Met272Leu
ENST00000650307.1:n.1709A>T
ENST00000652429.1:c.883A>T MANE Select	ENSP00000498786.1:p.Met295Leu
ENST00000278715.7:c.883A>T	ENSP00000278715.3:p.Met295Leu
ENST00000392841.1:c.832A>T	ENSP00000376584.1:p.Met278Leu
ENST00000442944.6:c.832A>T	ENSP00000392041.2:p.Met278Leu
ENST00000537841.5:c.832A>T	ENSP00000444730.1:p.Met278Leu
ENST00000539045.1:n.382A>T
ENST00000542044.5:n.1328A>T
ENST00000542729.5:c.712A>T	ENSP00000443058.1:p.Met238Leu
ENST00000543090.5:c.790A>T	ENSP00000445429.1:p.Met264Leu
ENST00000543543.5:n.1358A>T
ENST00000544182.1:n.1332A>T
ENST00000544387.5:c.763A>T	ENSP00000438424.1:p.Met255Leu
ENST00000546226.5:n.1645A>T
NM_000190.3:c.883A>T	NP_000181.2:p.Met295Leu
NM_001024382.1:c.832A>T	NP_001019553.1:p.Met278Leu
NM_001258208.1:c.763A>T	NP_001245137.1:p.Met255Leu
NM_001258209.1:c.712A>T	NP_001245138.1:p.Met238Leu
XM_005271531.1:c.832A>T	XP_005271588.1:p.Met278Leu
XM_005271532.1:c.832A>T	XP_005271589.1:p.Met278Leu
XM_005271533.2:c.829A>T	XP_005271590.1:p.Met277Leu
XM_011542796.1:c.718A>T	XP_011541098.1:p.Met240Leu
NM_000190.4:c.883A>T MANE Select	NP_000181.2:p.Met295Leu
NM_001024382.2:c.832A>T	NP_001019553.1:p.Met278Leu
XM_005271533.3:c.829A>T	XP_005271590.1:p.Met277Leu
XM_017017629.1:c.832A>T	XP_016873118.1:p.Met278Leu
XM_024448460.1:c.709A>T	XP_024304228.1:p.Met237Leu
NM_001258208.2:c.763A>T	NP_001245137.1:p.Met255Leu
NM_001258209.2:c.712A>T	NP_001245138.1:p.Met238Leu