Canonical Allele Identifier: CA412074512

Gene: ALG12

Linked Data

• gnomAD v4: 22-49909252-T-C
• MyVariant Identifiers: chr22:g.50302900T>C (hg19) ; chr22:g.49909252T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49909252T>C , CM000684.2:g.49909252T>C	GRCh38
NC_000022.10:g.50302900T>C , CM000684.1:g.50302900T>C	GRCh37
NC_000022.9:g.48688904T>C	NCBI36
NG_008927.1:g.14207A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.760A>G MANE Select	ENSP00000333813.5:p.Asn254Asp
ENST00000330817.10:c.760A>G	ENSP00000333813.5:p.Asn254Asp
ENST00000492791.1:c.291A>G
NM_024105.3:c.760A>G	NP_077010.1:p.Asn254Asp
XM_011530369.1:c.760A>G	XP_011528671.1:p.Asn254Asp
XM_011530370.1:c.760A>G	XP_011528672.1:p.Asn254Asp
XM_011530371.1:c.760A>G	XP_011528673.1:p.Asn254Asp
XM_011530371.2:c.760A>G	XP_011528673.1:p.Asn254Asp
XM_017028936.1:c.760A>G	XP_016884425.1:p.Asn254Asp
XM_017028937.1:c.760A>G	XP_016884426.1:p.Asn254Asp
NM_024105.4:c.760A>G MANE Select	NP_077010.1:p.Asn254Asp