Canonical Allele Identifier: CA1118741972

Gene: ANXA13

Linked Data

• dbSNP Id: rs1586322604
• gnomAD v3: 8-123702470-C-A
• gnomAD v4: 8-123702470-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.123702470C>A , CM000670.2:g.123702470C>A	GRCh38
NC_000008.10:g.124714710C>A , CM000670.1:g.124714710C>A	GRCh37
NC_000008.9:g.124783891C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419625.6:c.186+172G>T MANE Select	ENSP00000390809.1:n.186+172G>T
ENST00000262219.10:c.309+172G>T	ENSP00000262219.6:n.309+172G>T
ENST00000419625.5:c.186+172G>T	ENSP00000390809.1:n.186+172G>T
ENST00000520519.1:c.99+172G>T	ENSP00000429358.1:n.99+172G>T
NM_001003954.1:c.309+172G>T	NP_001003954.1:n.309+172G>T
NM_004306.2:c.186+172G>T	NP_004297.2:n.186+172G>T
NM_001003954.2:c.309+172G>T	NP_001003954.1:n.309+172G>T
NM_004306.3:c.186+172G>T	NP_004297.2:n.186+172G>T
NM_004306.4:c.186+172G>T MANE Select	NP_004297.2:n.186+172G>T
NM_001003954.3:c.309+172G>T	NP_001003954.1:n.309+172G>T