Canonical Allele Identifier: CA229595988

Gene: HMBS

Linked Data

• dbSNP Id: rs557506252
• gnomAD v2: 11-118962839-T-C
• gnomAD v3: 11-119092129-T-C
• gnomAD v4: 11-119092129-T-C
• MyVariant Identifiers: chr11:g.118962839T>C (hg19) ; chr11:g.119092129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092129T>C , CM000673.2:g.119092129T>C	GRCh38
NC_000011.9:g.118962839T>C , CM000673.1:g.118962839T>C	GRCh37
NC_000011.8:g.118468049T>C	NCBI36
NG_008093.1:g.12253T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.452T>C	ENSP00000509288.1:p.Leu151Pro
ENST00000691144.1:n.2358T>C
ENST00000691249.1:n.1201T>C
ENST00000442944.7:c.599T>C	ENSP00000392041.3:p.Leu200Pro
ENST00000536813.6:c.566T>C	ENSP00000438726.2:p.Leu189Pro
ENST00000546302.6:c.539T>C	ENSP00000445599.1:p.Leu180Pro
ENST00000640813.1:c.461+255T>C	ENSP00000491061.1:n.461+255T>C
ENST00000648026.1:c.511T>C	ENSP00000498044.1:p.Cys171Arg
ENST00000648374.1:c.566T>C	ENSP00000497255.1:p.Leu189Pro
ENST00000648488.1:c.*90T>C	ENSP00000498079.1:n.*90T>C
ENST00000649823.1:n.834T>C
ENST00000650101.1:c.548T>C	ENSP00000496970.1:p.Leu183Pro
ENST00000650307.1:n.1443T>C
ENST00000652429.1:c.617T>C MANE Select	ENSP00000498786.1:p.Leu206Pro
ENST00000278715.7:c.617T>C	ENSP00000278715.3:p.Leu206Pro
ENST00000392841.1:c.566T>C	ENSP00000376584.1:p.Leu189Pro
ENST00000442944.6:c.566T>C	ENSP00000392041.2:p.Leu189Pro
ENST00000537841.5:c.566T>C	ENSP00000444730.1:p.Leu189Pro
ENST00000542044.5:n.1062T>C
ENST00000542345.5:n.755T>C
ENST00000542729.5:c.566T>C	ENSP00000443058.1:p.Leu189Pro
ENST00000543090.5:c.559-275T>C	ENSP00000445429.1:n.559-275T>C
ENST00000543543.5:n.852T>C
ENST00000544182.1:n.592T>C
ENST00000544387.5:c.617T>C	ENSP00000438424.1:p.Leu206Pro
ENST00000545621.5:c.*512T>C	ENSP00000444849.1:n.*512T>C
ENST00000546226.5:n.905T>C
ENST00000546302.5:c.539T>C	ENSP00000445599.1:p.Leu180Pro
NM_000190.3:c.617T>C	NP_000181.2:p.Leu206Pro
NM_001024382.1:c.566T>C	NP_001019553.1:p.Leu189Pro
NM_001258208.1:c.617T>C	NP_001245137.1:p.Leu206Pro
NM_001258209.1:c.566T>C	NP_001245138.1:p.Leu189Pro
XM_005271531.1:c.566T>C	XP_005271588.1:p.Leu189Pro
XM_005271532.1:c.566T>C	XP_005271589.1:p.Leu189Pro
XM_005271533.2:c.563T>C	XP_005271590.1:p.Leu188Pro
XM_011542796.1:c.452T>C	XP_011541098.1:p.Leu151Pro
NM_000190.4:c.617T>C MANE Select	NP_000181.2:p.Leu206Pro
NM_001024382.2:c.566T>C	NP_001019553.1:p.Leu189Pro
XM_005271533.3:c.563T>C	XP_005271590.1:p.Leu188Pro
XM_017017629.1:c.566T>C	XP_016873118.1:p.Leu189Pro
XM_024448460.1:c.563T>C	XP_024304228.1:p.Leu188Pro
NM_001258208.2:c.617T>C	NP_001245137.1:p.Leu206Pro
NM_001258209.2:c.566T>C	NP_001245138.1:p.Leu189Pro