Canonical Allele Identifier: CA382899528

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963893T>G (hg19) ; chr11:g.119093183T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093183T>G , CM000673.2:g.119093183T>G	GRCh38
NC_000011.9:g.118963893T>G , CM000673.1:g.118963893T>G	GRCh37
NC_000011.8:g.118469103T>G	NCBI36
NG_008093.1:g.13307T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.821T>G	ENSP00000509288.1:p.Leu274Trp
ENST00000691144.1:n.3201T>G
ENST00000691249.1:n.1810T>G
ENST00000442944.7:c.968T>G	ENSP00000392041.3:p.Leu323Trp
ENST00000640813.1:c.*223T>G	ENSP00000491061.1:n.*223T>G
ENST00000648026.1:c.880T>G	ENSP00000498044.1:n.880T>G
ENST00000648374.1:c.935T>G	ENSP00000497255.1:p.Leu312Trp
ENST00000650101.1:c.917T>G	ENSP00000496970.1:p.Leu306Trp
ENST00000650307.1:n.1812T>G
ENST00000652429.1:c.986T>G MANE Select	ENSP00000498786.1:p.Leu329Trp
ENST00000278715.7:c.986T>G	ENSP00000278715.3:p.Leu329Trp
ENST00000392841.1:c.935T>G	ENSP00000376584.1:p.Leu312Trp
ENST00000442944.6:c.935T>G	ENSP00000392041.2:p.Leu312Trp
ENST00000537841.5:c.935T>G	ENSP00000444730.1:p.Leu312Trp
ENST00000539045.1:n.485T>G
ENST00000542044.5:n.1431T>G
ENST00000542729.5:c.815T>G	ENSP00000443058.1:p.Leu272Trp
ENST00000543090.5:c.893T>G	ENSP00000445429.1:p.Leu298Trp
ENST00000543543.5:n.1461T>G
ENST00000544182.1:n.1435T>G
ENST00000544387.5:c.866T>G	ENSP00000438424.1:p.Leu289Trp
ENST00000546226.5:n.1748T>G
NM_000190.3:c.986T>G	NP_000181.2:p.Leu329Trp
NM_001024382.1:c.935T>G	NP_001019553.1:p.Leu312Trp
NM_001258208.1:c.866T>G	NP_001245137.1:p.Leu289Trp
NM_001258209.1:c.815T>G	NP_001245138.1:p.Leu272Trp
XM_005271531.1:c.935T>G	XP_005271588.1:p.Leu312Trp
XM_005271532.1:c.935T>G	XP_005271589.1:p.Leu312Trp
XM_005271533.2:c.932T>G	XP_005271590.1:p.Leu311Trp
XM_011542796.1:c.821T>G	XP_011541098.1:p.Leu274Trp
NM_000190.4:c.986T>G MANE Select	NP_000181.2:p.Leu329Trp
NM_001024382.2:c.935T>G	NP_001019553.1:p.Leu312Trp
XM_005271533.3:c.932T>G	XP_005271590.1:p.Leu311Trp
XM_017017629.1:c.935T>G	XP_016873118.1:p.Leu312Trp
XM_024448460.1:c.812T>G	XP_024304228.1:p.Leu271Trp
NM_001258208.2:c.866T>G	NP_001245137.1:p.Leu289Trp
NM_001258209.2:c.815T>G	NP_001245138.1:p.Leu272Trp