Canonical Allele Identifier: CA10300702

Gene: ALG12

Linked Data

• dbSNP Id: rs150980313
• ExAC: 22:50307138 C / T
• gnomAD v2: 22-50307138-C-T
• gnomAD v3: 22-49913490-C-T
• gnomAD v4: 22-49913490-C-T
• MyVariant Identifiers: chr22:g.50307138C>T (hg19) ; chr22:g.49913490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913490C>T , CM000684.2:g.49913490C>T	GRCh38
NC_000022.10:g.50307138C>T , CM000684.1:g.50307138C>T	GRCh37
NC_000022.9:g.48693142C>T	NCBI36
NG_008927.1:g.9969G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330817.11:c.190G>A MANE Select	ENSP00000333813.5:p.Val64Ile
ENST00000330817.10:c.190G>A	ENSP00000333813.5:p.Val64Ile
NM_024105.3:c.190G>A	NP_077010.1:p.Val64Ile
XM_011530369.1:c.190G>A	XP_011528671.1:p.Val64Ile
XM_011530370.1:c.190G>A	XP_011528672.1:p.Val64Ile
XM_011530371.1:c.190G>A	XP_011528673.1:p.Val64Ile
XM_011530371.2:c.190G>A	XP_011528673.1:p.Val64Ile
XM_017028936.1:c.190G>A	XP_016884425.1:p.Val64Ile
XM_017028937.1:c.190G>A	XP_016884426.1:p.Val64Ile
NM_024105.4:c.190G>A MANE Select	NP_077010.1:p.Val64Ile