Canonical Allele Identifier: CA477129011

Gene: HMBS

Linked Data

• ClinVar Variation Id: 488823
• ClinVar RCV Id: RCV000578508 ; RCV002255098
• dbSNP Id: rs1555206170
• MyVariant Identifiers: chr11:g.118963233G>A (hg19) ; chr11:g.119092523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092523G>A , CM000673.2:g.119092523G>A	GRCh38
NC_000011.9:g.118963233G>A , CM000673.1:g.118963233G>A	GRCh37
NC_000011.8:g.118468443G>A	NCBI36
NG_008093.1:g.12647G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.606G>A	ENSP00000509288.1:p.Leu202=
ENST00000691144.1:n.2752G>A
ENST00000691249.1:n.1595G>A
ENST00000442944.7:c.753G>A	ENSP00000392041.3:p.Leu251=
ENST00000640813.1:c.*8G>A	ENSP00000491061.1:n.*8G>A
ENST00000648026.1:c.665G>A	ENSP00000498044.1:n.665G>A
ENST00000648374.1:c.720G>A	ENSP00000497255.1:p.Leu240=
ENST00000649823.1:n.1228G>A
ENST00000650101.1:c.702G>A	ENSP00000496970.1:p.Leu234=
ENST00000650307.1:n.1597G>A
ENST00000652429.1:c.771G>A MANE Select	ENSP00000498786.1:p.Leu257=
ENST00000278715.7:c.771G>A	ENSP00000278715.3:p.Leu257=
ENST00000392841.1:c.720G>A	ENSP00000376584.1:p.Leu240=
ENST00000442944.6:c.720G>A	ENSP00000392041.2:p.Leu240=
ENST00000537841.5:c.720G>A	ENSP00000444730.1:p.Leu240=
ENST00000542044.5:n.1216G>A
ENST00000542729.5:c.601-235G>A	ENSP00000443058.1:n.601-235G>A
ENST00000543090.5:c.678G>A	ENSP00000445429.1:p.Leu226=
ENST00000543543.5:n.1246G>A
ENST00000544182.1:n.986G>A
ENST00000544387.5:c.652-235G>A	ENSP00000438424.1:n.652-235G>A
ENST00000546226.5:n.1299G>A
NM_000190.3:c.771G>A	NP_000181.2:p.Leu257=
NM_001024382.1:c.720G>A	NP_001019553.1:p.Leu240=
NM_001258208.1:c.652-235G>A	NP_001245137.1:n.652-235G>A
NM_001258209.1:c.601-235G>A	NP_001245138.1:n.601-235G>A
XM_005271531.1:c.720G>A	XP_005271588.1:p.Leu240=
XM_005271532.1:c.720G>A	XP_005271589.1:p.Leu240=
XM_005271533.2:c.717G>A	XP_005271590.1:p.Leu239=
XM_011542796.1:c.606G>A	XP_011541098.1:p.Leu202=
NM_000190.4:c.771G>A MANE Select	NP_000181.2:p.Leu257=
NM_001024382.2:c.720G>A	NP_001019553.1:p.Leu240=
XM_005271533.3:c.717G>A	XP_005271590.1:p.Leu239=
XM_017017629.1:c.720G>A	XP_016873118.1:p.Leu240=
XM_024448460.1:c.598-235G>A	XP_024304228.1:n.598-235G>A
NM_001258208.2:c.652-235G>A	NP_001245137.1:n.652-235G>A
NM_001258209.2:c.601-235G>A	NP_001245138.1:n.601-235G>A