Canonical Allele Identifier: CA2616354847

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092329-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092329T>C , CM000673.2:g.119092329T>C	GRCh38
NC_000011.9:g.118963039T>C , CM000673.1:g.118963039T>C	GRCh37
NC_000011.8:g.118468249T>C	NCBI36
NG_008093.1:g.12453T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.487-75T>C	ENSP00000509288.1:n.487-75T>C
ENST00000691144.1:n.2558T>C
ENST00000691249.1:n.1401T>C
ENST00000442944.7:c.634-75T>C	ENSP00000392041.3:n.634-75T>C
ENST00000536813.6:c.601-75T>C	ENSP00000438726.2:n.601-75T>C
ENST00000640813.1:c.462-75T>C	ENSP00000491061.1:n.462-75T>C
ENST00000648026.1:c.546-75T>C	ENSP00000498044.1:n.546-75T>C
ENST00000648374.1:c.601-75T>C	ENSP00000497255.1:n.601-75T>C
ENST00000649823.1:n.1034T>C
ENST00000650101.1:c.583-75T>C	ENSP00000496970.1:n.583-75T>C
ENST00000650307.1:n.1478-75T>C
ENST00000652429.1:c.652-75T>C MANE Select	ENSP00000498786.1:n.652-75T>C
ENST00000278715.7:c.652-75T>C	ENSP00000278715.3:n.652-75T>C
ENST00000392841.1:c.601-75T>C	ENSP00000376584.1:n.601-75T>C
ENST00000442944.6:c.601-75T>C	ENSP00000392041.2:n.601-75T>C
ENST00000537841.5:c.601-75T>C	ENSP00000444730.1:n.601-75T>C
ENST00000542044.5:n.1097-75T>C
ENST00000542729.5:c.600+166T>C	ENSP00000443058.1:n.600+166T>C
ENST00000543090.5:c.559-75T>C	ENSP00000445429.1:n.559-75T>C
ENST00000543543.5:n.1052T>C
ENST00000544182.1:n.792T>C
ENST00000544387.5:c.651+166T>C	ENSP00000438424.1:n.651+166T>C
ENST00000545621.5:c.*712T>C	ENSP00000444849.1:n.*712T>C
ENST00000546226.5:n.1105T>C
NM_000190.3:c.652-75T>C	NP_000181.2:n.652-75T>C
NM_001024382.1:c.601-75T>C	NP_001019553.1:n.601-75T>C
NM_001258208.1:c.651+166T>C	NP_001245137.1:n.651+166T>C
NM_001258209.1:c.600+166T>C	NP_001245138.1:n.600+166T>C
XM_005271531.1:c.601-75T>C	XP_005271588.1:n.601-75T>C
XM_005271532.1:c.601-75T>C	XP_005271589.1:n.601-75T>C
XM_005271533.2:c.598-75T>C	XP_005271590.1:n.598-75T>C
XM_011542796.1:c.487-75T>C	XP_011541098.1:n.487-75T>C
NM_000190.4:c.652-75T>C MANE Select	NP_000181.2:n.652-75T>C
NM_001024382.2:c.601-75T>C	NP_001019553.1:n.601-75T>C
XM_005271533.3:c.598-75T>C	XP_005271590.1:n.598-75T>C
XM_017017629.1:c.601-75T>C	XP_016873118.1:n.601-75T>C
XM_024448460.1:c.597+166T>C	XP_024304228.1:n.597+166T>C
NM_001258208.2:c.651+166T>C	NP_001245137.1:n.651+166T>C
NM_001258209.2:c.600+166T>C	NP_001245138.1:n.600+166T>C