Canonical Allele Identifier: CA672379021

Gene: HMBS

Linked Data

• dbSNP Id: rs1312937855
• gnomAD v4: 11-119093474-T-C
• MyVariant Identifiers: chr11:g.118964184T>C (hg19) ; chr11:g.119093474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093474T>C , CM000673.2:g.119093474T>C	GRCh38
NC_000011.9:g.118964184T>C , CM000673.1:g.118964184T>C	GRCh37
NC_000011.8:g.118469394T>C	NCBI36
NG_008093.1:g.13598T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*191T>C	ENSP00000509288.1:n.*191T>C
ENST00000691144.1:n.3492T>C
ENST00000691249.1:n.2101T>C
ENST00000442944.7:c.*191T>C	ENSP00000392041.3:n.*191T>C
ENST00000640813.1:c.*514T>C	ENSP00000491061.1:n.*514T>C
ENST00000648026.1:c.1171T>C	ENSP00000498044.1:n.1171T>C
ENST00000648374.1:c.*191T>C	ENSP00000497255.1:n.*191T>C
ENST00000650101.1:c.*191T>C	ENSP00000496970.1:n.*191T>C
ENST00000650307.1:n.2103T>C
ENST00000652429.1:c.*191T>C MANE Select	ENSP00000498786.1:n.*191T>C
ENST00000278715.7:c.*191T>C	ENSP00000278715.3:n.*191T>C
ENST00000392841.1:c.*191T>C	ENSP00000376584.1:n.*191T>C
ENST00000442944.6:c.*191T>C	ENSP00000392041.2:n.*191T>C
ENST00000537841.5:c.*191T>C	ENSP00000444730.1:n.*191T>C
ENST00000539045.1:n.776T>C
ENST00000542729.5:c.*191T>C	ENSP00000443058.1:n.*191T>C
ENST00000543090.5:c.*191T>C	ENSP00000445429.1:n.*191T>C
ENST00000543543.5:n.1752T>C
ENST00000544387.5:c.*191T>C	ENSP00000438424.1:n.*191T>C
ENST00000546226.5:n.2039T>C
NM_000190.3:c.*191T>C	NP_000181.2:n.*191T>C
NM_001024382.1:c.*191T>C	NP_001019553.1:n.*191T>C
NM_001258208.1:c.*191T>C	NP_001245137.1:n.*191T>C
NM_001258209.1:c.*191T>C	NP_001245138.1:n.*191T>C
XM_005271531.1:c.*191T>C	XP_005271588.1:n.*191T>C
XM_005271532.1:c.*191T>C	XP_005271589.1:n.*191T>C
XM_005271533.2:c.*191T>C	XP_005271590.1:n.*191T>C
XM_011542796.1:c.*191T>C	XP_011541098.1:n.*191T>C
NM_000190.4:c.*191T>C MANE Select	NP_000181.2:n.*191T>C
NM_001024382.2:c.*191T>C	NP_001019553.1:n.*191T>C
XM_005271533.3:c.*191T>C	XP_005271590.1:n.*191T>C
XM_017017629.1:c.*191T>C	XP_016873118.1:n.*191T>C
XM_024448460.1:c.*191T>C	XP_024304228.1:n.*191T>C
NM_001258208.2:c.*191T>C	NP_001245137.1:n.*191T>C
NM_001258209.2:c.*191T>C	NP_001245138.1:n.*191T>C