Canonical Allele Identifier: CA10300491

Gene: ALG12

Linked Data

• dbSNP Id: rs143204935
• ExAC: 22:50302898 G / A
• gnomAD v2: 22-50302898-G-A
• gnomAD v3: 22-49909250-G-A
• gnomAD v4: 22-49909250-G-A
• MyVariant Identifiers: chr22:g.50302898G>A (hg19) ; chr22:g.49909250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49909250G>A , CM000684.2:g.49909250G>A	GRCh38
NC_000022.10:g.50302898G>A , CM000684.1:g.50302898G>A	GRCh37
NC_000022.9:g.48688902G>A	NCBI36
NG_008927.1:g.14209C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330817.11:c.762C>T MANE Select	ENSP00000333813.5:p.Asn254=
ENST00000330817.10:c.762C>T	ENSP00000333813.5:p.Asn254=
ENST00000492791.1:c.293C>T
NM_024105.3:c.762C>T	NP_077010.1:p.Asn254=
XM_011530369.1:c.762C>T	XP_011528671.1:p.Asn254=
XM_011530370.1:c.762C>T	XP_011528672.1:p.Asn254=
XM_011530371.1:c.762C>T	XP_011528673.1:p.Asn254=
XM_011530371.2:c.762C>T	XP_011528673.1:p.Asn254=
XM_017028936.1:c.762C>T	XP_016884425.1:p.Asn254=
XM_017028937.1:c.762C>T	XP_016884426.1:p.Asn254=
NM_024105.4:c.762C>T MANE Select	NP_077010.1:p.Asn254=