Canonical Allele Identifier: CA382897711

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963184C>T (hg19) ; chr11:g.119092474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092474C>T , CM000673.2:g.119092474C>T	GRCh38
NC_000011.9:g.118963184C>T , CM000673.1:g.118963184C>T	GRCh37
NC_000011.8:g.118468394C>T	NCBI36
NG_008093.1:g.12598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.557C>T	ENSP00000509288.1:p.Pro186Leu
ENST00000691144.1:n.2703C>T
ENST00000691249.1:n.1546C>T
ENST00000442944.7:c.704C>T	ENSP00000392041.3:p.Pro235Leu
ENST00000536813.6:c.671C>T	ENSP00000438726.2:p.Pro224Leu
ENST00000640813.1:c.532C>T	ENSP00000491061.1:p.Pro178Ser
ENST00000648026.1:c.616C>T	ENSP00000498044.1:p.Pro206Ser
ENST00000648374.1:c.671C>T	ENSP00000497255.1:p.Pro224Leu
ENST00000649823.1:n.1179C>T
ENST00000650101.1:c.653C>T	ENSP00000496970.1:p.Pro218Leu
ENST00000650307.1:n.1548C>T
ENST00000652429.1:c.722C>T MANE Select	ENSP00000498786.1:p.Pro241Leu
ENST00000278715.7:c.722C>T	ENSP00000278715.3:p.Pro241Leu
ENST00000392841.1:c.671C>T	ENSP00000376584.1:p.Pro224Leu
ENST00000442944.6:c.671C>T	ENSP00000392041.2:p.Pro224Leu
ENST00000537841.5:c.671C>T	ENSP00000444730.1:p.Pro224Leu
ENST00000542044.5:n.1167C>T
ENST00000542729.5:c.601-284C>T	ENSP00000443058.1:n.601-284C>T
ENST00000543090.5:c.629C>T	ENSP00000445429.1:p.Pro210Leu
ENST00000543543.5:n.1197C>T
ENST00000544182.1:n.937C>T
ENST00000544387.5:c.652-284C>T	ENSP00000438424.1:n.652-284C>T
ENST00000545621.5:c.*857C>T	ENSP00000444849.1:n.*857C>T
ENST00000546226.5:n.1250C>T
NM_000190.3:c.722C>T	NP_000181.2:p.Pro241Leu
NM_001024382.1:c.671C>T	NP_001019553.1:p.Pro224Leu
NM_001258208.1:c.652-284C>T	NP_001245137.1:n.652-284C>T
NM_001258209.1:c.601-284C>T	NP_001245138.1:n.601-284C>T
XM_005271531.1:c.671C>T	XP_005271588.1:p.Pro224Leu
XM_005271532.1:c.671C>T	XP_005271589.1:p.Pro224Leu
XM_005271533.2:c.668C>T	XP_005271590.1:p.Pro223Leu
XM_011542796.1:c.557C>T	XP_011541098.1:p.Pro186Leu
NM_000190.4:c.722C>T MANE Select	NP_000181.2:p.Pro241Leu
NM_001024382.2:c.671C>T	NP_001019553.1:p.Pro224Leu
XM_005271533.3:c.668C>T	XP_005271590.1:p.Pro223Leu
XM_017017629.1:c.671C>T	XP_016873118.1:p.Pro224Leu
XM_024448460.1:c.598-284C>T	XP_024304228.1:n.598-284C>T
NM_001258208.2:c.652-284C>T	NP_001245137.1:n.652-284C>T
NM_001258209.2:c.601-284C>T	NP_001245138.1:n.601-284C>T