Canonical Allele Identifier: CA805671731

Gene: ANXA6

Linked Data

• dbSNP Id: rs1187728544
• gnomAD v3: 5-151101129-T-C
• gnomAD v4: 5-151101129-T-C
• MyVariant Identifiers: chr5:g.150480690T>C (hg19) ; chr5:g.151101129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151101129T>C , CM000667.2:g.151101129T>C	GRCh38
NC_000005.9:g.150480690T>C , CM000667.1:g.150480690T>C	GRCh37
NC_000005.8:g.150460883T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700367.1:c.*319A>G	ENSP00000514965.1:n.*319A>G
ENST00000354546.10:c.*319A>G MANE Select	ENSP00000346550.5:n.*319A>G
ENST00000354546.9:c.*319A>G	ENSP00000346550.5:n.*319A>G
ENST00000377751.9:c.*319A>G	ENSP00000366980.5:n.*319A>G
ENST00000522664.5:c.201-167A>G
ENST00000523714.5:c.*319A>G	ENSP00000430517.1:n.*319A>G
NM_001155.4:c.*319A>G	NP_001146.2:n.*319A>G
NM_001193544.1:c.*319A>G	NP_001180473.1:n.*319A>G
XM_005268432.3:c.*319A>G	XP_005268489.1:n.*319A>G
NM_001363114.1:c.*319A>G	NP_001350043.1:n.*319A>G
NM_001155.5:c.*319A>G MANE Select	NP_001146.2:n.*319A>G
NM_001193544.2:c.*319A>G	NP_001180473.1:n.*319A>G
NM_001363114.2:c.*319A>G	NP_001350043.1:n.*319A>G