Canonical Allele Identifier: CA382898464

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963511A>T (hg19) ; chr11:g.119092801A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092801A>T , CM000673.2:g.119092801A>T	GRCh38
NC_000011.9:g.118963511A>T , CM000673.1:g.118963511A>T	GRCh37
NC_000011.8:g.118468721A>T	NCBI36
NG_008093.1:g.12925A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.650A>T	ENSP00000509288.1:p.Lys217Met
ENST00000691144.1:n.3030A>T
ENST00000691249.1:n.1639A>T
ENST00000442944.7:c.797A>T	ENSP00000392041.3:p.Lys266Met
ENST00000640813.1:c.*52A>T	ENSP00000491061.1:n.*52A>T
ENST00000648026.1:c.709A>T	ENSP00000498044.1:n.709A>T
ENST00000648374.1:c.764A>T	ENSP00000497255.1:p.Lys255Met
ENST00000649823.1:n.1272A>T
ENST00000650101.1:c.746A>T	ENSP00000496970.1:p.Lys249Met
ENST00000650307.1:n.1641A>T
ENST00000652429.1:c.815A>T MANE Select	ENSP00000498786.1:p.Lys272Met
ENST00000278715.7:c.815A>T	ENSP00000278715.3:p.Lys272Met
ENST00000392841.1:c.764A>T	ENSP00000376584.1:p.Lys255Met
ENST00000442944.6:c.764A>T	ENSP00000392041.2:p.Lys255Met
ENST00000537841.5:c.764A>T	ENSP00000444730.1:p.Lys255Met
ENST00000539045.1:n.191A>T
ENST00000542044.5:n.1260A>T
ENST00000542729.5:c.644A>T	ENSP00000443058.1:p.Lys215Met
ENST00000543090.5:c.722A>T	ENSP00000445429.1:p.Lys241Met
ENST00000543543.5:n.1290A>T
ENST00000544182.1:n.1264A>T
ENST00000544387.5:c.695A>T	ENSP00000438424.1:p.Lys232Met
ENST00000546226.5:n.1577A>T
NM_000190.3:c.815A>T	NP_000181.2:p.Lys272Met
NM_001024382.1:c.764A>T	NP_001019553.1:p.Lys255Met
NM_001258208.1:c.695A>T	NP_001245137.1:p.Lys232Met
NM_001258209.1:c.644A>T	NP_001245138.1:p.Lys215Met
XM_005271531.1:c.764A>T	XP_005271588.1:p.Lys255Met
XM_005271532.1:c.764A>T	XP_005271589.1:p.Lys255Met
XM_005271533.2:c.761A>T	XP_005271590.1:p.Lys254Met
XM_011542796.1:c.650A>T	XP_011541098.1:p.Lys217Met
NM_000190.4:c.815A>T MANE Select	NP_000181.2:p.Lys272Met
NM_001024382.2:c.764A>T	NP_001019553.1:p.Lys255Met
XM_005271533.3:c.761A>T	XP_005271590.1:p.Lys254Met
XM_017017629.1:c.764A>T	XP_016873118.1:p.Lys255Met
XM_024448460.1:c.641A>T	XP_024304228.1:p.Lys214Met
NM_001258208.2:c.695A>T	NP_001245137.1:p.Lys232Met
NM_001258209.2:c.644A>T	NP_001245138.1:p.Lys215Met