Canonical Allele Identifier: CA477129523

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092796-T-C
• MyVariant Identifiers: chr11:g.118963506T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092796T>C , CM000673.2:g.119092796T>C	GRCh38
NC_000011.9:g.118963506T>C , CM000673.1:g.118963506T>C	GRCh37
NC_000011.8:g.118468716T>C	NCBI36
NG_008093.1:g.12920T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.645T>C	ENSP00000509288.1:p.Ala215=
ENST00000691144.1:n.3025T>C
ENST00000691249.1:n.1634T>C
ENST00000442944.7:c.792T>C	ENSP00000392041.3:p.Ala264=
ENST00000640813.1:c.*47T>C	ENSP00000491061.1:n.*47T>C
ENST00000648026.1:c.704T>C	ENSP00000498044.1:n.704T>C
ENST00000648374.1:c.759T>C	ENSP00000497255.1:p.Ala253=
ENST00000649823.1:n.1267T>C
ENST00000650101.1:c.741T>C	ENSP00000496970.1:p.Ala247=
ENST00000650307.1:n.1636T>C
ENST00000652429.1:c.810T>C MANE Select	ENSP00000498786.1:p.Ala270=
ENST00000278715.7:c.810T>C	ENSP00000278715.3:p.Ala270=
ENST00000392841.1:c.759T>C	ENSP00000376584.1:p.Ala253=
ENST00000442944.6:c.759T>C	ENSP00000392041.2:p.Ala253=
ENST00000537841.5:c.759T>C	ENSP00000444730.1:p.Ala253=
ENST00000539045.1:n.186T>C
ENST00000542044.5:n.1255T>C
ENST00000542729.5:c.639T>C	ENSP00000443058.1:p.Ala213=
ENST00000543090.5:c.717T>C	ENSP00000445429.1:p.Ala239=
ENST00000543543.5:n.1285T>C
ENST00000544182.1:n.1259T>C
ENST00000544387.5:c.690T>C	ENSP00000438424.1:p.Ala230=
ENST00000546226.5:n.1572T>C
NM_000190.3:c.810T>C	NP_000181.2:p.Ala270=
NM_001024382.1:c.759T>C	NP_001019553.1:p.Ala253=
NM_001258208.1:c.690T>C	NP_001245137.1:p.Ala230=
NM_001258209.1:c.639T>C	NP_001245138.1:p.Ala213=
XM_005271531.1:c.759T>C	XP_005271588.1:p.Ala253=
XM_005271532.1:c.759T>C	XP_005271589.1:p.Ala253=
XM_005271533.2:c.756T>C	XP_005271590.1:p.Ala252=
XM_011542796.1:c.645T>C	XP_011541098.1:p.Ala215=
NM_000190.4:c.810T>C MANE Select	NP_000181.2:p.Ala270=
NM_001024382.2:c.759T>C	NP_001019553.1:p.Ala253=
XM_005271533.3:c.756T>C	XP_005271590.1:p.Ala252=
XM_017017629.1:c.759T>C	XP_016873118.1:p.Ala253=
XM_024448460.1:c.636T>C	XP_024304228.1:p.Ala212=
NM_001258208.2:c.690T>C	NP_001245137.1:p.Ala230=
NM_001258209.2:c.639T>C	NP_001245138.1:p.Ala213=