Canonical Allele Identifier: CA2575084870

Gene: HMBS

Linked Data

• gnomAD v4: 11-119091343-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091343G>C , CM000673.2:g.119091343G>C	GRCh38
NC_000011.9:g.118962053G>C , CM000673.1:g.118962053G>C	GRCh37
NC_000011.8:g.118467263G>C	NCBI36
NG_008093.1:g.11467G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.334-70G>C	ENSP00000509288.1:n.334-70G>C
ENST00000686690.1:n.1349-70G>C
ENST00000691144.1:n.2240-70G>C
ENST00000691249.1:n.1083-70G>C
ENST00000442944.7:c.481-70G>C	ENSP00000392041.3:n.481-70G>C
ENST00000534956.2:n.448-518G>C
ENST00000536813.6:c.448-70G>C	ENSP00000438726.2:n.448-70G>C
ENST00000546302.6:c.421-70G>C	ENSP00000445599.1:n.421-70G>C
ENST00000640813.1:c.448-518G>C	ENSP00000491061.1:n.448-518G>C
ENST00000648026.1:c.493-518G>C	ENSP00000498044.1:n.493-518G>C
ENST00000648374.1:c.448-70G>C	ENSP00000497255.1:n.448-70G>C
ENST00000648488.1:c.*85+87G>C	ENSP00000498079.1:n.*85+87G>C
ENST00000649823.1:n.716-70G>C
ENST00000649868.1:c.*207-518G>C	ENSP00000497548.1:n.*207-518G>C
ENST00000650101.1:c.430-70G>C	ENSP00000496970.1:n.430-70G>C
ENST00000650307.1:n.1325-70G>C
ENST00000652429.1:c.499-70G>C MANE Select	ENSP00000498786.1:n.499-70G>C
ENST00000278715.7:c.499-70G>C	ENSP00000278715.3:n.499-70G>C
ENST00000392841.1:c.448-70G>C	ENSP00000376584.1:n.448-70G>C
ENST00000442944.6:c.448-70G>C	ENSP00000392041.2:n.448-70G>C
ENST00000534956.1:n.415-518G>C
ENST00000535253.5:c.448-70G>C	ENSP00000442079.1:n.448-70G>C
ENST00000535793.5:c.*394-70G>C	ENSP00000439904.1:n.*394-70G>C
ENST00000537841.5:c.448-70G>C	ENSP00000444730.1:n.448-70G>C
ENST00000539986.5:c.448-70G>C	ENSP00000440092.1:n.448-70G>C
ENST00000542044.5:n.944-70G>C
ENST00000542345.5:n.637-70G>C
ENST00000542729.5:c.448-70G>C	ENSP00000443058.1:n.448-70G>C
ENST00000542822.5:c.*435-70G>C	ENSP00000444817.1:n.*435-70G>C
ENST00000543090.5:c.445-70G>C	ENSP00000445429.1:n.445-70G>C
ENST00000543543.5:n.734-70G>C
ENST00000544360.5:n.467-70G>C
ENST00000544387.5:c.499-70G>C	ENSP00000438424.1:n.499-70G>C
ENST00000545621.5:c.*394-70G>C	ENSP00000444849.1:n.*394-70G>C
ENST00000546226.5:n.787-70G>C
ENST00000546302.5:c.421-70G>C	ENSP00000445599.1:n.421-70G>C
NM_000190.3:c.499-70G>C	NP_000181.2:n.499-70G>C
NM_001024382.1:c.448-70G>C	NP_001019553.1:n.448-70G>C
NM_001258208.1:c.499-70G>C	NP_001245137.1:n.499-70G>C
NM_001258209.1:c.448-70G>C	NP_001245138.1:n.448-70G>C
XM_005271531.1:c.448-70G>C	XP_005271588.1:n.448-70G>C
XM_005271532.1:c.448-70G>C	XP_005271589.1:n.448-70G>C
XM_005271533.2:c.445-70G>C	XP_005271590.1:n.445-70G>C
XM_011542796.1:c.334-70G>C	XP_011541098.1:n.334-70G>C
NM_000190.4:c.499-70G>C MANE Select	NP_000181.2:n.499-70G>C
NM_001024382.2:c.448-70G>C	NP_001019553.1:n.448-70G>C
XM_005271533.3:c.445-70G>C	XP_005271590.1:n.445-70G>C
XM_017017629.1:c.448-70G>C	XP_016873118.1:n.448-70G>C
XM_024448460.1:c.445-70G>C	XP_024304228.1:n.445-70G>C
NM_001258208.2:c.499-70G>C	NP_001245137.1:n.499-70G>C
NM_001258209.2:c.448-70G>C	NP_001245138.1:n.448-70G>C