Canonical Allele Identifier: CA382897148

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963126G>C (hg19) ; chr11:g.119092416G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092416G>C , CM000673.2:g.119092416G>C	GRCh38
NC_000011.9:g.118963126G>C , CM000673.1:g.118963126G>C	GRCh37
NC_000011.8:g.118468336G>C	NCBI36
NG_008093.1:g.12540G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.499G>C	ENSP00000509288.1:p.Val167Leu
ENST00000691144.1:n.2645G>C
ENST00000691249.1:n.1488G>C
ENST00000442944.7:c.646G>C	ENSP00000392041.3:p.Val216Leu
ENST00000536813.6:c.613G>C	ENSP00000438726.2:p.Val205Leu
ENST00000640813.1:c.474G>C	ENSP00000491061.1:p.Ala158=
ENST00000648026.1:c.558G>C	ENSP00000498044.1:p.Ala186=
ENST00000648374.1:c.613G>C	ENSP00000497255.1:p.Val205Leu
ENST00000649823.1:n.1121G>C
ENST00000650101.1:c.595G>C	ENSP00000496970.1:p.Val199Leu
ENST00000650307.1:n.1490G>C
ENST00000652429.1:c.664G>C MANE Select	ENSP00000498786.1:p.Val222Leu
ENST00000278715.7:c.664G>C	ENSP00000278715.3:p.Val222Leu
ENST00000392841.1:c.613G>C	ENSP00000376584.1:p.Val205Leu
ENST00000442944.6:c.613G>C	ENSP00000392041.2:p.Val205Leu
ENST00000537841.5:c.613G>C	ENSP00000444730.1:p.Val205Leu
ENST00000542044.5:n.1109G>C
ENST00000542729.5:c.600+253G>C	ENSP00000443058.1:n.600+253G>C
ENST00000543090.5:c.571G>C	ENSP00000445429.1:p.Val191Leu
ENST00000543543.5:n.1139G>C
ENST00000544182.1:n.879G>C
ENST00000544387.5:c.651+253G>C	ENSP00000438424.1:n.651+253G>C
ENST00000545621.5:c.*799G>C	ENSP00000444849.1:n.*799G>C
ENST00000546226.5:n.1192G>C
NM_000190.3:c.664G>C	NP_000181.2:p.Val222Leu
NM_001024382.1:c.613G>C	NP_001019553.1:p.Val205Leu
NM_001258208.1:c.651+253G>C	NP_001245137.1:n.651+253G>C
NM_001258209.1:c.600+253G>C	NP_001245138.1:n.600+253G>C
XM_005271531.1:c.613G>C	XP_005271588.1:p.Val205Leu
XM_005271532.1:c.613G>C	XP_005271589.1:p.Val205Leu
XM_005271533.2:c.610G>C	XP_005271590.1:p.Val204Leu
XM_011542796.1:c.499G>C	XP_011541098.1:p.Val167Leu
NM_000190.4:c.664G>C MANE Select	NP_000181.2:p.Val222Leu
NM_001024382.2:c.613G>C	NP_001019553.1:p.Val205Leu
XM_005271533.3:c.610G>C	XP_005271590.1:p.Val204Leu
XM_017017629.1:c.613G>C	XP_016873118.1:p.Val205Leu
XM_024448460.1:c.597+253G>C	XP_024304228.1:n.597+253G>C
NM_001258208.2:c.651+253G>C	NP_001245137.1:n.651+253G>C
NM_001258209.2:c.600+253G>C	NP_001245138.1:n.600+253G>C