Canonical Allele Identifier: CA104723424

Gene: ANXA5

Linked Data

• dbSNP Id: rs188512338
• gnomAD v2: 4-122607508-G-A
• gnomAD v3: 4-121686353-G-A
• gnomAD v4: 4-121686353-G-A
• MyVariant Identifiers: chr4:g.122607508G>A (hg19) ; chr4:g.121686353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121686353G>A , CM000666.2:g.121686353G>A	GRCh38
NC_000004.11:g.122607508G>A , CM000666.1:g.122607508G>A	GRCh37
NC_000004.10:g.122826958G>A	NCBI36
NG_032042.1:g.15640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296511.10:c.29C>T MANE Select	ENSP00000296511.5:p.Thr10Ile
ENST00000296511.9:c.29C>T	ENSP00000296511.5:p.Thr10Ile
ENST00000501272.6:c.10-2876C>T	ENSP00000424106.1:n.10-2876C>T
ENST00000506395.5:c.29C>T	ENSP00000421421.1:p.Thr10Ile
ENST00000509016.5:n.150C>T
ENST00000511552.5:n.415C>T
ENST00000513428.5:n.194C>T
ENST00000513523.1:n.197C>T
ENST00000513728.1:c.29C>T	ENSP00000427135.1:p.Thr10Ile
ENST00000515017.5:c.29C>T	ENSP00000424199.1:p.Thr10Ile
NM_001154.3:c.29C>T	NP_001145.1:p.Thr10Ile
XM_017008141.2:c.29C>T	XP_016863630.1:p.Thr10Ile
NM_001154.4:c.29C>T MANE Select	NP_001145.1:p.Thr10Ile