Canonical Allele Identifier: CA10300703

Gene: ALG12

Linked Data

• ClinVar Variation Id: 717416
• ClinVar RCV Id: RCV000890208
• dbSNP Id: rs190345740
• ExAC: 22:50307139 G / A
• gnomAD v2: 22-50307139-G-A
• gnomAD v3: 22-49913491-G-A
• gnomAD v4: 22-49913491-G-A
• MyVariant Identifiers: chr22:g.50307139G>A (hg19) ; chr22:g.49913491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913491G>A , CM000684.2:g.49913491G>A	GRCh38
NC_000022.10:g.50307139G>A , CM000684.1:g.50307139G>A	GRCh37
NC_000022.9:g.48693143G>A	NCBI36
NG_008927.1:g.9968C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330817.11:c.189C>T MANE Select	ENSP00000333813.5:p.Val63=
ENST00000330817.10:c.189C>T	ENSP00000333813.5:p.Val63=
NM_024105.3:c.189C>T	NP_077010.1:p.Val63=
XM_011530369.1:c.189C>T	XP_011528671.1:p.Val63=
XM_011530370.1:c.189C>T	XP_011528672.1:p.Val63=
XM_011530371.1:c.189C>T	XP_011528673.1:p.Val63=
XM_011530371.2:c.189C>T	XP_011528673.1:p.Val63=
XM_017028936.1:c.189C>T	XP_016884425.1:p.Val63=
XM_017028937.1:c.189C>T	XP_016884426.1:p.Val63=
NM_024105.4:c.189C>T MANE Select	NP_077010.1:p.Val63=