Canonical Allele Identifier: CA382899954

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093243-A-C
• MyVariant Identifiers: chr11:g.118963953A>C (hg19) ; chr11:g.119093243A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.881A>C	ENSP00000509288.1:p.Asn294Thr
ENST00000691144.1:n.3261A>C
ENST00000691249.1:n.1870A>C
ENST00000442944.7:c.1028A>C	ENSP00000392041.3:p.Asn343Thr
ENST00000640813.1:c.*283A>C	ENSP00000491061.1:n.*283A>C
ENST00000648026.1:c.940A>C	ENSP00000498044.1:n.940A>C
ENST00000648374.1:c.995A>C	ENSP00000497255.1:p.Asn332Thr
ENST00000650101.1:c.977A>C	ENSP00000496970.1:p.Asn326Thr
ENST00000650307.1:n.1872A>C
ENST00000652429.1:c.1046A>C MANE Select	ENSP00000498786.1:p.Asn349Thr
ENST00000278715.7:c.1046A>C	ENSP00000278715.3:p.Asn349Thr
ENST00000392841.1:c.995A>C	ENSP00000376584.1:p.Asn332Thr
ENST00000442944.6:c.995A>C	ENSP00000392041.2:p.Asn332Thr
ENST00000537841.5:c.995A>C	ENSP00000444730.1:p.Asn332Thr
ENST00000539045.1:n.545A>C
ENST00000542044.5:n.1491A>C
ENST00000542729.5:c.875A>C	ENSP00000443058.1:p.Asn292Thr
ENST00000543090.5:c.953A>C	ENSP00000445429.1:p.Asn318Thr
ENST00000543543.5:n.1521A>C
ENST00000544182.1:n.1495A>C
ENST00000544387.5:c.926A>C	ENSP00000438424.1:p.Asn309Thr
ENST00000546226.5:n.1808A>C
NM_000190.3:c.1046A>C	NP_000181.2:p.Asn349Thr
NM_001024382.1:c.995A>C	NP_001019553.1:p.Asn332Thr
NM_001258208.1:c.926A>C	NP_001245137.1:p.Asn309Thr
NM_001258209.1:c.875A>C	NP_001245138.1:p.Asn292Thr
XM_005271531.1:c.995A>C	XP_005271588.1:p.Asn332Thr
XM_005271532.1:c.995A>C	XP_005271589.1:p.Asn332Thr
XM_005271533.2:c.992A>C	XP_005271590.1:p.Asn331Thr
XM_011542796.1:c.881A>C	XP_011541098.1:p.Asn294Thr
NM_000190.4:c.1046A>C MANE Select	NP_000181.2:p.Asn349Thr
NM_001024382.2:c.995A>C	NP_001019553.1:p.Asn332Thr
XM_005271533.3:c.992A>C	XP_005271590.1:p.Asn331Thr
XM_017017629.1:c.995A>C	XP_016873118.1:p.Asn332Thr
XM_024448460.1:c.872A>C	XP_024304228.1:p.Asn291Thr
NM_001258208.2:c.926A>C	NP_001245137.1:p.Asn309Thr
NM_001258209.2:c.875A>C	NP_001245138.1:p.Asn292Thr