Canonical Allele Identifier: CA10300711

Gene: ALG12

Linked Data

• ClinVar Variation Id: 757575
• ClinVar RCV Id: RCV002066146
• dbSNP Id: rs368302798
• ExAC: 22:50307170 G / A
• gnomAD v2: 22-50307170-G-A
• gnomAD v3: 22-49913522-G-A
• gnomAD v4: 22-49913522-G-A
• MyVariant Identifiers: chr22:g.50307170G>A (hg19) ; chr22:g.49913522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913522G>A , CM000684.2:g.49913522G>A	GRCh38
NC_000022.10:g.50307170G>A , CM000684.1:g.50307170G>A	GRCh37
NC_000022.9:g.48693174G>A	NCBI36
NG_008927.1:g.9937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.163-5C>T MANE Select	ENSP00000333813.5:n.163-5C>T
ENST00000330817.10:c.163-5C>T	ENSP00000333813.5:n.163-5C>T
NM_024105.3:c.163-5C>T	NP_077010.1:n.163-5C>T
XM_011530369.1:c.163-5C>T	XP_011528671.1:n.163-5C>T
XM_011530370.1:c.163-5C>T	XP_011528672.1:n.163-5C>T
XM_011530371.1:c.163-5C>T	XP_011528673.1:n.163-5C>T
XM_011530371.2:c.163-5C>T	XP_011528673.1:n.163-5C>T
XM_017028936.1:c.163-5C>T	XP_016884425.1:n.163-5C>T
XM_017028937.1:c.163-5C>T	XP_016884426.1:n.163-5C>T
NM_024105.4:c.163-5C>T MANE Select	NP_077010.1:n.163-5C>T