Canonical Allele Identifier: CA382899387

Gene: HMBS

Linked Data

• dbSNP Id: rs1425793705
• gnomAD v3: 11-119093165-T-C
• gnomAD v4: 11-119093165-T-C
• MyVariant Identifiers: chr11:g.118963875T>C (hg19) ; chr11:g.119093165T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093165T>C , CM000673.2:g.119093165T>C	GRCh38
NC_000011.9:g.118963875T>C , CM000673.1:g.118963875T>C	GRCh37
NC_000011.8:g.118469085T>C	NCBI36
NG_008093.1:g.13289T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.803T>C	ENSP00000509288.1:p.Ile268Thr
ENST00000691144.1:n.3183T>C
ENST00000691249.1:n.1792T>C
ENST00000442944.7:c.950T>C	ENSP00000392041.3:p.Ile317Thr
ENST00000640813.1:c.*205T>C	ENSP00000491061.1:n.*205T>C
ENST00000648026.1:c.862T>C	ENSP00000498044.1:n.862T>C
ENST00000648374.1:c.917T>C	ENSP00000497255.1:p.Ile306Thr
ENST00000650101.1:c.899T>C	ENSP00000496970.1:p.Ile300Thr
ENST00000650307.1:n.1794T>C
ENST00000652429.1:c.968T>C MANE Select	ENSP00000498786.1:p.Ile323Thr
ENST00000278715.7:c.968T>C	ENSP00000278715.3:p.Ile323Thr
ENST00000392841.1:c.917T>C	ENSP00000376584.1:p.Ile306Thr
ENST00000442944.6:c.917T>C	ENSP00000392041.2:p.Ile306Thr
ENST00000537841.5:c.917T>C	ENSP00000444730.1:p.Ile306Thr
ENST00000539045.1:n.467T>C
ENST00000542044.5:n.1413T>C
ENST00000542729.5:c.797T>C	ENSP00000443058.1:p.Ile266Thr
ENST00000543090.5:c.875T>C	ENSP00000445429.1:p.Ile292Thr
ENST00000543543.5:n.1443T>C
ENST00000544182.1:n.1417T>C
ENST00000544387.5:c.848T>C	ENSP00000438424.1:p.Ile283Thr
ENST00000546226.5:n.1730T>C
NM_000190.3:c.968T>C	NP_000181.2:p.Ile323Thr
NM_001024382.1:c.917T>C	NP_001019553.1:p.Ile306Thr
NM_001258208.1:c.848T>C	NP_001245137.1:p.Ile283Thr
NM_001258209.1:c.797T>C	NP_001245138.1:p.Ile266Thr
XM_005271531.1:c.917T>C	XP_005271588.1:p.Ile306Thr
XM_005271532.1:c.917T>C	XP_005271589.1:p.Ile306Thr
XM_005271533.2:c.914T>C	XP_005271590.1:p.Ile305Thr
XM_011542796.1:c.803T>C	XP_011541098.1:p.Ile268Thr
NM_000190.4:c.968T>C MANE Select	NP_000181.2:p.Ile323Thr
NM_001024382.2:c.917T>C	NP_001019553.1:p.Ile306Thr
XM_005271533.3:c.914T>C	XP_005271590.1:p.Ile305Thr
XM_017017629.1:c.917T>C	XP_016873118.1:p.Ile306Thr
XM_024448460.1:c.794T>C	XP_024304228.1:p.Ile265Thr
NM_001258208.2:c.848T>C	NP_001245137.1:p.Ile283Thr
NM_001258209.2:c.797T>C	NP_001245138.1:p.Ile266Thr