Canonical Allele Identifier: CA6314216

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1635406
• ClinVar RCV Id: RCV002133414
• dbSNP Id: rs181822212
• ExAC: 11:118963538 G / T
• gnomAD v2: 11-118963538-G-T
• gnomAD v3: 11-119092828-G-T
• gnomAD v4: 11-119092828-G-T
• MyVariant Identifiers: chr11:g.118963538G>T (hg19) ; chr11:g.119092828G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092828G>T , CM000673.2:g.119092828G>T	GRCh38
NC_000011.9:g.118963538G>T , CM000673.1:g.118963538G>T	GRCh37
NC_000011.8:g.118468748G>T	NCBI36
NG_008093.1:g.12952G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.660+17G>T	ENSP00000509288.1:n.660+17G>T
ENST00000691144.1:n.3040+17G>T
ENST00000691249.1:n.1649+17G>T
ENST00000442944.7:c.807+17G>T	ENSP00000392041.3:n.807+17G>T
ENST00000640813.1:c.*62+17G>T	ENSP00000491061.1:n.*62+17G>T
ENST00000648026.1:c.719+17G>T	ENSP00000498044.1:n.719+17G>T
ENST00000648374.1:c.774+17G>T	ENSP00000497255.1:n.774+17G>T
ENST00000649823.1:n.1282+17G>T
ENST00000650101.1:c.756+17G>T	ENSP00000496970.1:n.756+17G>T
ENST00000650307.1:n.1651+17G>T
ENST00000652429.1:c.825+17G>T MANE Select	ENSP00000498786.1:n.825+17G>T
ENST00000278715.7:c.825+17G>T	ENSP00000278715.3:n.825+17G>T
ENST00000392841.1:c.774+17G>T	ENSP00000376584.1:n.774+17G>T
ENST00000442944.6:c.774+17G>T	ENSP00000392041.2:n.774+17G>T
ENST00000537841.5:c.774+17G>T	ENSP00000444730.1:n.774+17G>T
ENST00000539045.1:n.218G>T
ENST00000542044.5:n.1270+17G>T
ENST00000542729.5:c.654+17G>T	ENSP00000443058.1:n.654+17G>T
ENST00000543090.5:c.732+17G>T	ENSP00000445429.1:n.732+17G>T
ENST00000543543.5:n.1300+17G>T
ENST00000544182.1:n.1274+17G>T
ENST00000544387.5:c.705+17G>T	ENSP00000438424.1:n.705+17G>T
ENST00000546226.5:n.1587+17G>T
NM_000190.3:c.825+17G>T	NP_000181.2:n.825+17G>T
NM_001024382.1:c.774+17G>T	NP_001019553.1:n.774+17G>T
NM_001258208.1:c.705+17G>T	NP_001245137.1:n.705+17G>T
NM_001258209.1:c.654+17G>T	NP_001245138.1:n.654+17G>T
XM_005271531.1:c.774+17G>T	XP_005271588.1:n.774+17G>T
XM_005271532.1:c.774+17G>T	XP_005271589.1:n.774+17G>T
XM_005271533.2:c.771+17G>T	XP_005271590.1:n.771+17G>T
XM_011542796.1:c.660+17G>T	XP_011541098.1:n.660+17G>T
NM_000190.4:c.825+17G>T MANE Select	NP_000181.2:n.825+17G>T
NM_001024382.2:c.774+17G>T	NP_001019553.1:n.774+17G>T
XM_005271533.3:c.771+17G>T	XP_005271590.1:n.771+17G>T
XM_017017629.1:c.774+17G>T	XP_016873118.1:n.774+17G>T
XM_024448460.1:c.651+17G>T	XP_024304228.1:n.651+17G>T
NM_001258208.2:c.705+17G>T	NP_001245137.1:n.705+17G>T
NM_001258209.2:c.654+17G>T	NP_001245138.1:n.654+17G>T