Canonical Allele Identifier: CA382897826

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092486-T-C
• MyVariant Identifiers: chr11:g.118963196T>C (hg19) ; chr11:g.119092486T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092486T>C , CM000673.2:g.119092486T>C	GRCh38
NC_000011.9:g.118963196T>C , CM000673.1:g.118963196T>C	GRCh37
NC_000011.8:g.118468406T>C	NCBI36
NG_008093.1:g.12610T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.569T>C	ENSP00000509288.1:p.Leu190Pro
ENST00000691144.1:n.2715T>C
ENST00000691249.1:n.1558T>C
ENST00000442944.7:c.716T>C	ENSP00000392041.3:p.Leu239Pro
ENST00000536813.6:c.683T>C	ENSP00000438726.2:p.Leu228Pro
ENST00000640813.1:c.544T>C	ENSP00000491061.1:p.Phe182Leu
ENST00000648026.1:c.628T>C	ENSP00000498044.1:p.Phe210Leu
ENST00000648374.1:c.683T>C	ENSP00000497255.1:p.Leu228Pro
ENST00000649823.1:n.1191T>C
ENST00000650101.1:c.665T>C	ENSP00000496970.1:p.Leu222Pro
ENST00000650307.1:n.1560T>C
ENST00000652429.1:c.734T>C MANE Select	ENSP00000498786.1:p.Leu245Pro
ENST00000278715.7:c.734T>C	ENSP00000278715.3:p.Leu245Pro
ENST00000392841.1:c.683T>C	ENSP00000376584.1:p.Leu228Pro
ENST00000442944.6:c.683T>C	ENSP00000392041.2:p.Leu228Pro
ENST00000537841.5:c.683T>C	ENSP00000444730.1:p.Leu228Pro
ENST00000542044.5:n.1179T>C
ENST00000542729.5:c.601-272T>C	ENSP00000443058.1:n.601-272T>C
ENST00000543090.5:c.641T>C	ENSP00000445429.1:p.Leu214Pro
ENST00000543543.5:n.1209T>C
ENST00000544182.1:n.949T>C
ENST00000544387.5:c.652-272T>C	ENSP00000438424.1:n.652-272T>C
ENST00000545621.5:c.*869T>C	ENSP00000444849.1:n.*869T>C
ENST00000546226.5:n.1262T>C
NM_000190.3:c.734T>C	NP_000181.2:p.Leu245Pro
NM_001024382.1:c.683T>C	NP_001019553.1:p.Leu228Pro
NM_001258208.1:c.652-272T>C	NP_001245137.1:n.652-272T>C
NM_001258209.1:c.601-272T>C	NP_001245138.1:n.601-272T>C
XM_005271531.1:c.683T>C	XP_005271588.1:p.Leu228Pro
XM_005271532.1:c.683T>C	XP_005271589.1:p.Leu228Pro
XM_005271533.2:c.680T>C	XP_005271590.1:p.Leu227Pro
XM_011542796.1:c.569T>C	XP_011541098.1:p.Leu190Pro
NM_000190.4:c.734T>C MANE Select	NP_000181.2:p.Leu245Pro
NM_001024382.2:c.683T>C	NP_001019553.1:p.Leu228Pro
XM_005271533.3:c.680T>C	XP_005271590.1:p.Leu227Pro
XM_017017629.1:c.683T>C	XP_016873118.1:p.Leu228Pro
XM_024448460.1:c.598-272T>C	XP_024304228.1:n.598-272T>C
NM_001258208.2:c.652-272T>C	NP_001245137.1:n.652-272T>C
NM_001258209.2:c.601-272T>C	NP_001245138.1:n.601-272T>C