Canonical Allele Identifier: CA942780409

Gene: HMBS

Linked Data

• dbSNP Id: rs1946292906
• gnomAD v3: 11-119092387-G-A
• gnomAD v4: 11-119092387-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092387G>A , CM000673.2:g.119092387G>A	GRCh38
NC_000011.9:g.118963097G>A , CM000673.1:g.118963097G>A	GRCh37
NC_000011.8:g.118468307G>A	NCBI36
NG_008093.1:g.12511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.487-17G>A	ENSP00000509288.1:n.487-17G>A
ENST00000691144.1:n.2616G>A
ENST00000691249.1:n.1459G>A
ENST00000442944.7:c.634-17G>A	ENSP00000392041.3:n.634-17G>A
ENST00000536813.6:c.601-17G>A	ENSP00000438726.2:n.601-17G>A
ENST00000640813.1:c.462-17G>A	ENSP00000491061.1:n.462-17G>A
ENST00000648026.1:c.546-17G>A	ENSP00000498044.1:n.546-17G>A
ENST00000648374.1:c.601-17G>A	ENSP00000497255.1:n.601-17G>A
ENST00000649823.1:n.1092G>A
ENST00000650101.1:c.583-17G>A	ENSP00000496970.1:n.583-17G>A
ENST00000650307.1:n.1478-17G>A
ENST00000652429.1:c.652-17G>A MANE Select	ENSP00000498786.1:n.652-17G>A
ENST00000278715.7:c.652-17G>A	ENSP00000278715.3:n.652-17G>A
ENST00000392841.1:c.601-17G>A	ENSP00000376584.1:n.601-17G>A
ENST00000442944.6:c.601-17G>A	ENSP00000392041.2:n.601-17G>A
ENST00000537841.5:c.601-17G>A	ENSP00000444730.1:n.601-17G>A
ENST00000542044.5:n.1097-17G>A
ENST00000542729.5:c.600+224G>A	ENSP00000443058.1:n.600+224G>A
ENST00000543090.5:c.559-17G>A	ENSP00000445429.1:n.559-17G>A
ENST00000543543.5:n.1110G>A
ENST00000544182.1:n.850G>A
ENST00000544387.5:c.651+224G>A	ENSP00000438424.1:n.651+224G>A
ENST00000545621.5:c.*770G>A	ENSP00000444849.1:n.*770G>A
ENST00000546226.5:n.1163G>A
NM_000190.3:c.652-17G>A	NP_000181.2:n.652-17G>A
NM_001024382.1:c.601-17G>A	NP_001019553.1:n.601-17G>A
NM_001258208.1:c.651+224G>A	NP_001245137.1:n.651+224G>A
NM_001258209.1:c.600+224G>A	NP_001245138.1:n.600+224G>A
XM_005271531.1:c.601-17G>A	XP_005271588.1:n.601-17G>A
XM_005271532.1:c.601-17G>A	XP_005271589.1:n.601-17G>A
XM_005271533.2:c.598-17G>A	XP_005271590.1:n.598-17G>A
XM_011542796.1:c.487-17G>A	XP_011541098.1:n.487-17G>A
NM_000190.4:c.652-17G>A MANE Select	NP_000181.2:n.652-17G>A
NM_001024382.2:c.601-17G>A	NP_001019553.1:n.601-17G>A
XM_005271533.3:c.598-17G>A	XP_005271590.1:n.598-17G>A
XM_017017629.1:c.601-17G>A	XP_016873118.1:n.601-17G>A
XM_024448460.1:c.597+224G>A	XP_024304228.1:n.597+224G>A
NM_001258208.2:c.651+224G>A	NP_001245137.1:n.651+224G>A
NM_001258209.2:c.600+224G>A	NP_001245138.1:n.600+224G>A