Canonical Allele Identifier: CA129882777

Gene: ANXA6

Linked Data

• dbSNP Id: rs983213911
• gnomAD v4: 5-151101075-C-A
• MyVariant Identifiers: chr5:g.150480636C>A (hg19) ; chr5:g.151101075C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151101075C>A , CM000667.2:g.151101075C>A	GRCh38
NC_000005.9:g.150480636C>A , CM000667.1:g.150480636C>A	GRCh37
NC_000005.8:g.150460829C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354546.10:c.*373G>T MANE Select	ENSP00000346550.5:n.*373G>T
ENST00000522664.5:c.201-113G>T
NM_001155.4:c.*373G>T	NP_001146.2:n.*373G>T
NM_001193544.1:c.*373G>T	NP_001180473.1:n.*373G>T
NM_001363114.1:c.*373G>T	NP_001350043.1:n.*373G>T
NM_001155.5:c.*373G>T MANE Select	NP_001146.2:n.*373G>T
NM_001193544.2:c.*373G>T	NP_001180473.1:n.*373G>T
NM_001363114.2:c.*373G>T	NP_001350043.1:n.*373G>T