Canonical Allele Identifier: CA184602992

Gene: ANXA13

Linked Data

• dbSNP Id: rs147486447
• gnomAD v2: 8-124714666-T-G
• gnomAD v3: 8-123702426-T-G
• gnomAD v4: 8-123702426-T-G
• MyVariant Identifiers: chr8:g.124714666T>G (hg19) ; chr8:g.123702426T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.123702426T>G , CM000670.2:g.123702426T>G	GRCh38
NC_000008.10:g.124714666T>G , CM000670.1:g.124714666T>G	GRCh37
NC_000008.9:g.124783847T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000419625.6:c.186+216A>C MANE Select	ENSP00000390809.1:n.186+216A>C
ENST00000262219.10:c.309+216A>C	ENSP00000262219.6:n.309+216A>C
ENST00000419625.5:c.186+216A>C	ENSP00000390809.1:n.186+216A>C
ENST00000520519.1:c.99+216A>C	ENSP00000429358.1:n.99+216A>C
NM_001003954.1:c.309+216A>C	NP_001003954.1:n.309+216A>C
NM_004306.2:c.186+216A>C	NP_004297.2:n.186+216A>C
NM_001003954.2:c.309+216A>C	NP_001003954.1:n.309+216A>C
NM_004306.3:c.186+216A>C	NP_004297.2:n.186+216A>C
NM_004306.4:c.186+216A>C MANE Select	NP_004297.2:n.186+216A>C
NM_001003954.3:c.309+216A>C	NP_001003954.1:n.309+216A>C