Canonical Allele Identifier: CA382896668

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092134-C-A
• MyVariant Identifiers: chr11:g.118962844C>A (hg19) ; chr11:g.119092134C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092134C>A , CM000673.2:g.119092134C>A	GRCh38
NC_000011.9:g.118962844C>A , CM000673.1:g.118962844C>A	GRCh37
NC_000011.8:g.118468054C>A	NCBI36
NG_008093.1:g.12258C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.457C>A	ENSP00000509288.1:p.Pro153Thr
ENST00000691144.1:n.2363C>A
ENST00000691249.1:n.1206C>A
ENST00000442944.7:c.604C>A	ENSP00000392041.3:p.Pro202Thr
ENST00000536813.6:c.571C>A	ENSP00000438726.2:p.Pro191Thr
ENST00000546302.6:c.544C>A	ENSP00000445599.1:p.Pro182Thr
ENST00000640813.1:c.461+260C>A	ENSP00000491061.1:n.461+260C>A
ENST00000648026.1:c.516C>A	ENSP00000498044.1:p.Thr172=
ENST00000648374.1:c.571C>A	ENSP00000497255.1:p.Pro191Thr
ENST00000648488.1:c.*95C>A	ENSP00000498079.1:n.*95C>A
ENST00000649823.1:n.839C>A
ENST00000650101.1:c.553C>A	ENSP00000496970.1:p.Pro185Thr
ENST00000650307.1:n.1448C>A
ENST00000652429.1:c.622C>A MANE Select	ENSP00000498786.1:p.Pro208Thr
ENST00000278715.7:c.622C>A	ENSP00000278715.3:p.Pro208Thr
ENST00000392841.1:c.571C>A	ENSP00000376584.1:p.Pro191Thr
ENST00000442944.6:c.571C>A	ENSP00000392041.2:p.Pro191Thr
ENST00000537841.5:c.571C>A	ENSP00000444730.1:p.Pro191Thr
ENST00000542044.5:n.1067C>A
ENST00000542345.5:n.760C>A
ENST00000542729.5:c.571C>A	ENSP00000443058.1:p.Pro191Thr
ENST00000543090.5:c.559-270C>A	ENSP00000445429.1:n.559-270C>A
ENST00000543543.5:n.857C>A
ENST00000544182.1:n.597C>A
ENST00000544387.5:c.622C>A	ENSP00000438424.1:p.Pro208Thr
ENST00000545621.5:c.*517C>A	ENSP00000444849.1:n.*517C>A
ENST00000546226.5:n.910C>A
ENST00000546302.5:c.544C>A	ENSP00000445599.1:p.Pro182Thr
NM_000190.3:c.622C>A	NP_000181.2:p.Pro208Thr
NM_001024382.1:c.571C>A	NP_001019553.1:p.Pro191Thr
NM_001258208.1:c.622C>A	NP_001245137.1:p.Pro208Thr
NM_001258209.1:c.571C>A	NP_001245138.1:p.Pro191Thr
XM_005271531.1:c.571C>A	XP_005271588.1:p.Pro191Thr
XM_005271532.1:c.571C>A	XP_005271589.1:p.Pro191Thr
XM_005271533.2:c.568C>A	XP_005271590.1:p.Pro190Thr
XM_011542796.1:c.457C>A	XP_011541098.1:p.Pro153Thr
NM_000190.4:c.622C>A MANE Select	NP_000181.2:p.Pro208Thr
NM_001024382.2:c.571C>A	NP_001019553.1:p.Pro191Thr
XM_005271533.3:c.568C>A	XP_005271590.1:p.Pro190Thr
XM_017017629.1:c.571C>A	XP_016873118.1:p.Pro191Thr
XM_024448460.1:c.568C>A	XP_024304228.1:p.Pro190Thr
NM_001258208.2:c.622C>A	NP_001245137.1:p.Pro208Thr
NM_001258209.2:c.571C>A	NP_001245138.1:p.Pro191Thr