Canonical Allele Identifier: CA382899376

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963874A>C (hg19) ; chr11:g.119093164A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093164A>C , CM000673.2:g.119093164A>C	GRCh38
NC_000011.9:g.118963874A>C , CM000673.1:g.118963874A>C	GRCh37
NC_000011.8:g.118469084A>C	NCBI36
NG_008093.1:g.13288A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.802A>C	ENSP00000509288.1:p.Ile268Leu
ENST00000691144.1:n.3182A>C
ENST00000691249.1:n.1791A>C
ENST00000442944.7:c.949A>C	ENSP00000392041.3:p.Ile317Leu
ENST00000640813.1:c.*204A>C	ENSP00000491061.1:n.*204A>C
ENST00000648026.1:c.861A>C	ENSP00000498044.1:n.861A>C
ENST00000648374.1:c.916A>C	ENSP00000497255.1:p.Ile306Leu
ENST00000650101.1:c.898A>C	ENSP00000496970.1:p.Ile300Leu
ENST00000650307.1:n.1793A>C
ENST00000652429.1:c.967A>C MANE Select	ENSP00000498786.1:p.Ile323Leu
ENST00000278715.7:c.967A>C	ENSP00000278715.3:p.Ile323Leu
ENST00000392841.1:c.916A>C	ENSP00000376584.1:p.Ile306Leu
ENST00000442944.6:c.916A>C	ENSP00000392041.2:p.Ile306Leu
ENST00000537841.5:c.916A>C	ENSP00000444730.1:p.Ile306Leu
ENST00000539045.1:n.466A>C
ENST00000542044.5:n.1412A>C
ENST00000542729.5:c.796A>C	ENSP00000443058.1:p.Ile266Leu
ENST00000543090.5:c.874A>C	ENSP00000445429.1:p.Ile292Leu
ENST00000543543.5:n.1442A>C
ENST00000544182.1:n.1416A>C
ENST00000544387.5:c.847A>C	ENSP00000438424.1:p.Ile283Leu
ENST00000546226.5:n.1729A>C
NM_000190.3:c.967A>C	NP_000181.2:p.Ile323Leu
NM_001024382.1:c.916A>C	NP_001019553.1:p.Ile306Leu
NM_001258208.1:c.847A>C	NP_001245137.1:p.Ile283Leu
NM_001258209.1:c.796A>C	NP_001245138.1:p.Ile266Leu
XM_005271531.1:c.916A>C	XP_005271588.1:p.Ile306Leu
XM_005271532.1:c.916A>C	XP_005271589.1:p.Ile306Leu
XM_005271533.2:c.913A>C	XP_005271590.1:p.Ile305Leu
XM_011542796.1:c.802A>C	XP_011541098.1:p.Ile268Leu
NM_000190.4:c.967A>C MANE Select	NP_000181.2:p.Ile323Leu
NM_001024382.2:c.916A>C	NP_001019553.1:p.Ile306Leu
XM_005271533.3:c.913A>C	XP_005271590.1:p.Ile305Leu
XM_017017629.1:c.916A>C	XP_016873118.1:p.Ile306Leu
XM_024448460.1:c.793A>C	XP_024304228.1:p.Ile265Leu
NM_001258208.2:c.847A>C	NP_001245137.1:p.Ile283Leu
NM_001258209.2:c.796A>C	NP_001245138.1:p.Ile266Leu