Canonical Allele Identifier: CA382897162

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963127T>G (hg19) ; chr11:g.119092417T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092417T>G , CM000673.2:g.119092417T>G	GRCh38
NC_000011.9:g.118963127T>G , CM000673.1:g.118963127T>G	GRCh37
NC_000011.8:g.118468337T>G	NCBI36
NG_008093.1:g.12541T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.500T>G	ENSP00000509288.1:p.Val167Gly
ENST00000691144.1:n.2646T>G
ENST00000691249.1:n.1489T>G
ENST00000442944.7:c.647T>G	ENSP00000392041.3:p.Val216Gly
ENST00000536813.6:c.614T>G	ENSP00000438726.2:p.Val205Gly
ENST00000640813.1:c.475T>G	ENSP00000491061.1:p.Trp159Gly
ENST00000648026.1:c.559T>G	ENSP00000498044.1:p.Trp187Gly
ENST00000648374.1:c.614T>G	ENSP00000497255.1:p.Val205Gly
ENST00000649823.1:n.1122T>G
ENST00000650101.1:c.596T>G	ENSP00000496970.1:p.Val199Gly
ENST00000650307.1:n.1491T>G
ENST00000652429.1:c.665T>G MANE Select	ENSP00000498786.1:p.Val222Gly
ENST00000278715.7:c.665T>G	ENSP00000278715.3:p.Val222Gly
ENST00000392841.1:c.614T>G	ENSP00000376584.1:p.Val205Gly
ENST00000442944.6:c.614T>G	ENSP00000392041.2:p.Val205Gly
ENST00000537841.5:c.614T>G	ENSP00000444730.1:p.Val205Gly
ENST00000542044.5:n.1110T>G
ENST00000542729.5:c.600+254T>G	ENSP00000443058.1:n.600+254T>G
ENST00000543090.5:c.572T>G	ENSP00000445429.1:p.Val191Gly
ENST00000543543.5:n.1140T>G
ENST00000544182.1:n.880T>G
ENST00000544387.5:c.651+254T>G	ENSP00000438424.1:n.651+254T>G
ENST00000545621.5:c.*800T>G	ENSP00000444849.1:n.*800T>G
ENST00000546226.5:n.1193T>G
NM_000190.3:c.665T>G	NP_000181.2:p.Val222Gly
NM_001024382.1:c.614T>G	NP_001019553.1:p.Val205Gly
NM_001258208.1:c.651+254T>G	NP_001245137.1:n.651+254T>G
NM_001258209.1:c.600+254T>G	NP_001245138.1:n.600+254T>G
XM_005271531.1:c.614T>G	XP_005271588.1:p.Val205Gly
XM_005271532.1:c.614T>G	XP_005271589.1:p.Val205Gly
XM_005271533.2:c.611T>G	XP_005271590.1:p.Val204Gly
XM_011542796.1:c.500T>G	XP_011541098.1:p.Val167Gly
NM_000190.4:c.665T>G MANE Select	NP_000181.2:p.Val222Gly
NM_001024382.2:c.614T>G	NP_001019553.1:p.Val205Gly
XM_005271533.3:c.611T>G	XP_005271590.1:p.Val204Gly
XM_017017629.1:c.614T>G	XP_016873118.1:p.Val205Gly
XM_024448460.1:c.597+254T>G	XP_024304228.1:n.597+254T>G
NM_001258208.2:c.651+254T>G	NP_001245137.1:n.651+254T>G
NM_001258209.2:c.600+254T>G	NP_001245138.1:n.600+254T>G