Canonical Allele Identifier: CA412080850

Gene: ALG12

Linked Data

• MyVariant Identifiers: chr22:g.50307278G>T (hg19) ; chr22:g.49913630G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913630G>T , CM000684.2:g.49913630G>T	GRCh38
NC_000022.10:g.50307278G>T , CM000684.1:g.50307278G>T	GRCh37
NC_000022.9:g.48693282G>T	NCBI36
NG_008927.1:g.9829C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.136C>A MANE Select	ENSP00000333813.5:p.Leu46Ile
ENST00000330817.10:c.136C>A	ENSP00000333813.5:p.Leu46Ile
NM_024105.3:c.136C>A	NP_077010.1:p.Leu46Ile
XM_011530369.1:c.136C>A	XP_011528671.1:p.Leu46Ile
XM_011530370.1:c.136C>A	XP_011528672.1:p.Leu46Ile
XM_011530371.1:c.136C>A	XP_011528673.1:p.Leu46Ile
XM_011530371.2:c.136C>A	XP_011528673.1:p.Leu46Ile
XM_017028936.1:c.136C>A	XP_016884425.1:p.Leu46Ile
XM_017028937.1:c.136C>A	XP_016884426.1:p.Leu46Ile
NM_024105.4:c.136C>A MANE Select	NP_077010.1:p.Leu46Ile