Canonical Allele Identifier: CA184603029

Gene: ANXA13

Linked Data

• dbSNP Id: rs542592437
• gnomAD v2: 8-124714768-C-T
• gnomAD v3: 8-123702528-C-T
• gnomAD v4: 8-123702528-C-T
• MyVariant Identifiers: chr8:g.124714768C>T (hg19) ; chr8:g.123702528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.123702528C>T , CM000670.2:g.123702528C>T	GRCh38
NC_000008.10:g.124714768C>T , CM000670.1:g.124714768C>T	GRCh37
NC_000008.9:g.124783949C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419625.6:c.186+114G>A MANE Select	ENSP00000390809.1:n.186+114G>A
ENST00000262219.10:c.309+114G>A	ENSP00000262219.6:n.309+114G>A
ENST00000419625.5:c.186+114G>A	ENSP00000390809.1:n.186+114G>A
ENST00000520519.1:c.99+114G>A	ENSP00000429358.1:n.99+114G>A
NM_001003954.1:c.309+114G>A	NP_001003954.1:n.309+114G>A
NM_004306.2:c.186+114G>A	NP_004297.2:n.186+114G>A
NM_001003954.2:c.309+114G>A	NP_001003954.1:n.309+114G>A
NM_004306.3:c.186+114G>A	NP_004297.2:n.186+114G>A
NM_004306.4:c.186+114G>A MANE Select	NP_004297.2:n.186+114G>A
NM_001003954.3:c.309+114G>A	NP_001003954.1:n.309+114G>A