Canonical Allele Identifier: CA382899949

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963953A>G (hg19) ; chr11:g.119093243A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093243A>G , CM000673.2:g.119093243A>G	GRCh38
NC_000011.9:g.118963953A>G , CM000673.1:g.118963953A>G	GRCh37
NC_000011.8:g.118469163A>G	NCBI36
NG_008093.1:g.13367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.881A>G	ENSP00000509288.1:p.Asn294Ser
ENST00000691144.1:n.3261A>G
ENST00000691249.1:n.1870A>G
ENST00000442944.7:c.1028A>G	ENSP00000392041.3:p.Asn343Ser
ENST00000640813.1:c.*283A>G	ENSP00000491061.1:n.*283A>G
ENST00000648026.1:c.940A>G	ENSP00000498044.1:n.940A>G
ENST00000648374.1:c.995A>G	ENSP00000497255.1:p.Asn332Ser
ENST00000650101.1:c.977A>G	ENSP00000496970.1:p.Asn326Ser
ENST00000650307.1:n.1872A>G
ENST00000652429.1:c.1046A>G MANE Select	ENSP00000498786.1:p.Asn349Ser
ENST00000278715.7:c.1046A>G	ENSP00000278715.3:p.Asn349Ser
ENST00000392841.1:c.995A>G	ENSP00000376584.1:p.Asn332Ser
ENST00000442944.6:c.995A>G	ENSP00000392041.2:p.Asn332Ser
ENST00000537841.5:c.995A>G	ENSP00000444730.1:p.Asn332Ser
ENST00000539045.1:n.545A>G
ENST00000542044.5:n.1491A>G
ENST00000542729.5:c.875A>G	ENSP00000443058.1:p.Asn292Ser
ENST00000543090.5:c.953A>G	ENSP00000445429.1:p.Asn318Ser
ENST00000543543.5:n.1521A>G
ENST00000544182.1:n.1495A>G
ENST00000544387.5:c.926A>G	ENSP00000438424.1:p.Asn309Ser
ENST00000546226.5:n.1808A>G
NM_000190.3:c.1046A>G	NP_000181.2:p.Asn349Ser
NM_001024382.1:c.995A>G	NP_001019553.1:p.Asn332Ser
NM_001258208.1:c.926A>G	NP_001245137.1:p.Asn309Ser
NM_001258209.1:c.875A>G	NP_001245138.1:p.Asn292Ser
XM_005271531.1:c.995A>G	XP_005271588.1:p.Asn332Ser
XM_005271532.1:c.995A>G	XP_005271589.1:p.Asn332Ser
XM_005271533.2:c.992A>G	XP_005271590.1:p.Asn331Ser
XM_011542796.1:c.881A>G	XP_011541098.1:p.Asn294Ser
NM_000190.4:c.1046A>G MANE Select	NP_000181.2:p.Asn349Ser
NM_001024382.2:c.995A>G	NP_001019553.1:p.Asn332Ser
XM_005271533.3:c.992A>G	XP_005271590.1:p.Asn331Ser
XM_017017629.1:c.995A>G	XP_016873118.1:p.Asn332Ser
XM_024448460.1:c.872A>G	XP_024304228.1:p.Asn291Ser
NM_001258208.2:c.926A>G	NP_001245137.1:p.Asn309Ser
NM_001258209.2:c.875A>G	NP_001245138.1:p.Asn292Ser