Canonical Allele Identifier: CA382899687

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963913A>C (hg19) ; chr11:g.119093203A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093203A>C , CM000673.2:g.119093203A>C	GRCh38
NC_000011.9:g.118963913A>C , CM000673.1:g.118963913A>C	GRCh37
NC_000011.8:g.118469123A>C	NCBI36
NG_008093.1:g.13327A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.841A>C	ENSP00000509288.1:p.Ile281Leu
ENST00000691144.1:n.3221A>C
ENST00000691249.1:n.1830A>C
ENST00000442944.7:c.988A>C	ENSP00000392041.3:p.Ile330Leu
ENST00000640813.1:c.*243A>C	ENSP00000491061.1:n.*243A>C
ENST00000648026.1:c.900A>C	ENSP00000498044.1:n.900A>C
ENST00000648374.1:c.955A>C	ENSP00000497255.1:p.Ile319Leu
ENST00000650101.1:c.937A>C	ENSP00000496970.1:p.Ile313Leu
ENST00000650307.1:n.1832A>C
ENST00000652429.1:c.1006A>C MANE Select	ENSP00000498786.1:p.Ile336Leu
ENST00000278715.7:c.1006A>C	ENSP00000278715.3:p.Ile336Leu
ENST00000392841.1:c.955A>C	ENSP00000376584.1:p.Ile319Leu
ENST00000442944.6:c.955A>C	ENSP00000392041.2:p.Ile319Leu
ENST00000537841.5:c.955A>C	ENSP00000444730.1:p.Ile319Leu
ENST00000539045.1:n.505A>C
ENST00000542044.5:n.1451A>C
ENST00000542729.5:c.835A>C	ENSP00000443058.1:p.Ile279Leu
ENST00000543090.5:c.913A>C	ENSP00000445429.1:p.Ile305Leu
ENST00000543543.5:n.1481A>C
ENST00000544182.1:n.1455A>C
ENST00000544387.5:c.886A>C	ENSP00000438424.1:p.Ile296Leu
ENST00000546226.5:n.1768A>C
NM_000190.3:c.1006A>C	NP_000181.2:p.Ile336Leu
NM_001024382.1:c.955A>C	NP_001019553.1:p.Ile319Leu
NM_001258208.1:c.886A>C	NP_001245137.1:p.Ile296Leu
NM_001258209.1:c.835A>C	NP_001245138.1:p.Ile279Leu
XM_005271531.1:c.955A>C	XP_005271588.1:p.Ile319Leu
XM_005271532.1:c.955A>C	XP_005271589.1:p.Ile319Leu
XM_005271533.2:c.952A>C	XP_005271590.1:p.Ile318Leu
XM_011542796.1:c.841A>C	XP_011541098.1:p.Ile281Leu
NM_000190.4:c.1006A>C MANE Select	NP_000181.2:p.Ile336Leu
NM_001024382.2:c.955A>C	NP_001019553.1:p.Ile319Leu
XM_005271533.3:c.952A>C	XP_005271590.1:p.Ile318Leu
XM_017017629.1:c.955A>C	XP_016873118.1:p.Ile319Leu
XM_024448460.1:c.832A>C	XP_024304228.1:p.Ile278Leu
NM_001258208.2:c.886A>C	NP_001245137.1:p.Ile296Leu
NM_001258209.2:c.835A>C	NP_001245138.1:p.Ile279Leu