Canonical Allele Identifier: CA2573146998

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1563455
• ClinVar RCV Id: RCV002207127
• dbSNP Id: rs2134876799
• gnomAD v4: 11-119092182-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092182G>A , CM000673.2:g.119092182G>A	GRCh38
NC_000011.9:g.118962892G>A , CM000673.1:g.118962892G>A	GRCh37
NC_000011.8:g.118468102G>A	NCBI36
NG_008093.1:g.12306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.486+19G>A	ENSP00000509288.1:n.486+19G>A
ENST00000691144.1:n.2411G>A
ENST00000691249.1:n.1254G>A
ENST00000442944.7:c.633+19G>A	ENSP00000392041.3:n.633+19G>A
ENST00000536813.6:c.600+19G>A	ENSP00000438726.2:n.600+19G>A
ENST00000640813.1:c.462-222G>A	ENSP00000491061.1:n.462-222G>A
ENST00000648026.1:c.545+19G>A	ENSP00000498044.1:n.545+19G>A
ENST00000648374.1:c.600+19G>A	ENSP00000497255.1:n.600+19G>A
ENST00000649823.1:n.887G>A
ENST00000650101.1:c.582+19G>A	ENSP00000496970.1:n.582+19G>A
ENST00000650307.1:n.1477+19G>A
ENST00000652429.1:c.651+19G>A MANE Select	ENSP00000498786.1:n.651+19G>A
ENST00000278715.7:c.651+19G>A	ENSP00000278715.3:n.651+19G>A
ENST00000392841.1:c.600+19G>A	ENSP00000376584.1:n.600+19G>A
ENST00000442944.6:c.600+19G>A	ENSP00000392041.2:n.600+19G>A
ENST00000537841.5:c.600+19G>A	ENSP00000444730.1:n.600+19G>A
ENST00000542044.5:n.1096+19G>A
ENST00000542345.5:n.808G>A
ENST00000542729.5:c.600+19G>A	ENSP00000443058.1:n.600+19G>A
ENST00000543090.5:c.559-222G>A	ENSP00000445429.1:n.559-222G>A
ENST00000543543.5:n.905G>A
ENST00000544182.1:n.645G>A
ENST00000544387.5:c.651+19G>A	ENSP00000438424.1:n.651+19G>A
ENST00000545621.5:c.*565G>A	ENSP00000444849.1:n.*565G>A
ENST00000546226.5:n.958G>A
NM_000190.3:c.651+19G>A	NP_000181.2:n.651+19G>A
NM_001024382.1:c.600+19G>A	NP_001019553.1:n.600+19G>A
NM_001258208.1:c.651+19G>A	NP_001245137.1:n.651+19G>A
NM_001258209.1:c.600+19G>A	NP_001245138.1:n.600+19G>A
XM_005271531.1:c.600+19G>A	XP_005271588.1:n.600+19G>A
XM_005271532.1:c.600+19G>A	XP_005271589.1:n.600+19G>A
XM_005271533.2:c.597+19G>A	XP_005271590.1:n.597+19G>A
XM_011542796.1:c.486+19G>A	XP_011541098.1:n.486+19G>A
NM_000190.4:c.651+19G>A MANE Select	NP_000181.2:n.651+19G>A
NM_001024382.2:c.600+19G>A	NP_001019553.1:n.600+19G>A
XM_005271533.3:c.597+19G>A	XP_005271590.1:n.597+19G>A
XM_017017629.1:c.600+19G>A	XP_016873118.1:n.600+19G>A
XM_024448460.1:c.597+19G>A	XP_024304228.1:n.597+19G>A
NM_001258208.2:c.651+19G>A	NP_001245137.1:n.651+19G>A
NM_001258209.2:c.600+19G>A	NP_001245138.1:n.600+19G>A