Canonical Allele Identifier: CA382898975

Gene: HMBS

Linked Data

• dbSNP Id: rs1161438069
• gnomAD v2: 11-118963723-C-T
• gnomAD v4: 11-119093013-C-T
• MyVariant Identifiers: chr11:g.118963723C>T (hg19) ; chr11:g.119093013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093013C>T , CM000673.2:g.119093013C>T	GRCh38
NC_000011.9:g.118963723C>T , CM000673.1:g.118963723C>T	GRCh37
NC_000011.8:g.118468933C>T	NCBI36
NG_008093.1:g.13137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.739C>T	ENSP00000509288.1:p.Pro247Ser
ENST00000691144.1:n.3119C>T
ENST00000691249.1:n.1728C>T
ENST00000442944.7:c.886C>T	ENSP00000392041.3:p.Pro296Ser
ENST00000640813.1:c.*141C>T	ENSP00000491061.1:n.*141C>T
ENST00000648026.1:c.798C>T	ENSP00000498044.1:n.798C>T
ENST00000648374.1:c.853C>T	ENSP00000497255.1:p.Pro285Ser
ENST00000650101.1:c.835C>T	ENSP00000496970.1:p.Pro279Ser
ENST00000650307.1:n.1730C>T
ENST00000652429.1:c.904C>T MANE Select	ENSP00000498786.1:p.Pro302Ser
ENST00000278715.7:c.904C>T	ENSP00000278715.3:p.Pro302Ser
ENST00000392841.1:c.853C>T	ENSP00000376584.1:p.Pro285Ser
ENST00000442944.6:c.853C>T	ENSP00000392041.2:p.Pro285Ser
ENST00000537841.5:c.853C>T	ENSP00000444730.1:p.Pro285Ser
ENST00000539045.1:n.403C>T
ENST00000542044.5:n.1349C>T
ENST00000542729.5:c.733C>T	ENSP00000443058.1:p.Pro245Ser
ENST00000543090.5:c.811C>T	ENSP00000445429.1:p.Pro271Ser
ENST00000543543.5:n.1379C>T
ENST00000544182.1:n.1353C>T
ENST00000544387.5:c.784C>T	ENSP00000438424.1:p.Pro262Ser
ENST00000546226.5:n.1666C>T
NM_000190.3:c.904C>T	NP_000181.2:p.Pro302Ser
NM_001024382.1:c.853C>T	NP_001019553.1:p.Pro285Ser
NM_001258208.1:c.784C>T	NP_001245137.1:p.Pro262Ser
NM_001258209.1:c.733C>T	NP_001245138.1:p.Pro245Ser
XM_005271531.1:c.853C>T	XP_005271588.1:p.Pro285Ser
XM_005271532.1:c.853C>T	XP_005271589.1:p.Pro285Ser
XM_005271533.2:c.850C>T	XP_005271590.1:p.Pro284Ser
XM_011542796.1:c.739C>T	XP_011541098.1:p.Pro247Ser
NM_000190.4:c.904C>T MANE Select	NP_000181.2:p.Pro302Ser
NM_001024382.2:c.853C>T	NP_001019553.1:p.Pro285Ser
XM_005271533.3:c.850C>T	XP_005271590.1:p.Pro284Ser
XM_017017629.1:c.853C>T	XP_016873118.1:p.Pro285Ser
XM_024448460.1:c.730C>T	XP_024304228.1:p.Pro244Ser
NM_001258208.2:c.784C>T	NP_001245137.1:p.Pro262Ser
NM_001258209.2:c.733C>T	NP_001245138.1:p.Pro245Ser