Canonical Allele Identifier: CA129863926

Gene: ANXA6

Linked Data

• dbSNP Id: rs559215287
• gnomAD v2: 5-150505452-C-T
• gnomAD v3: 5-151125891-C-T
• gnomAD v4: 5-151125891-C-T
• MyVariant Identifiers: chr5:g.150505452C>T (hg19) ; chr5:g.151125891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151125891C>T , CM000667.2:g.151125891C>T	GRCh38
NC_000005.9:g.150505452C>T , CM000667.1:g.150505452C>T	GRCh37
NC_000005.8:g.150485645C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000700367.1:c.1056+511G>A	ENSP00000514965.1:n.1056+511G>A
ENST00000354546.10:c.1056+511G>A MANE Select	ENSP00000346550.5:n.1056+511G>A
ENST00000354546.9:c.1056+511G>A	ENSP00000346550.5:n.1056+511G>A
ENST00000377751.9:c.205-3631G>A	ENSP00000366980.5:n.205-3631G>A
ENST00000517486.5:c.318+12787G>A	ENSP00000428916.1:n.318+12787G>A
ENST00000519644.6:c.*19+511G>A	ENSP00000430663.2:n.*19+511G>A
ENST00000520054.1:n.270+511G>A
ENST00000521512.5:c.435+511G>A	ENSP00000430420.1:n.435+511G>A
ENST00000523714.5:c.960+511G>A	ENSP00000430517.1:n.960+511G>A
NM_001155.4:c.1056+511G>A	NP_001146.2:n.1056+511G>A
NM_001193544.1:c.960+511G>A	NP_001180473.1:n.960+511G>A
XM_005268432.3:c.1056+511G>A	XP_005268489.1:n.1056+511G>A
NM_001363114.1:c.1056+511G>A	NP_001350043.1:n.1056+511G>A
NM_001155.5:c.1056+511G>A MANE Select	NP_001146.2:n.1056+511G>A
NM_001193544.2:c.960+511G>A	NP_001180473.1:n.960+511G>A
NM_001363114.2:c.1056+511G>A	NP_001350043.1:n.1056+511G>A