Canonical Allele Identifier: CA563603927

Gene: ANXA6

Linked Data

• dbSNP Id: rs1311114487
• gnomAD v2: 5-150480474-C-G
• gnomAD v3: 5-151100913-C-G
• gnomAD v4: 5-151100913-C-G
• MyVariant Identifiers: chr5:g.150480474C>G (hg19) ; chr5:g.151100913C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151100913C>G , CM000667.2:g.151100913C>G	GRCh38
NC_000005.9:g.150480474C>G , CM000667.1:g.150480474C>G	GRCh37
NC_000005.8:g.150460667C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354546.10:c.*535G>C MANE Select	ENSP00000346550.5:n.*535G>C
ENST00000522664.5:c.250G>C
NM_001155.4:c.*535G>C	NP_001146.2:n.*535G>C
NM_001193544.1:c.*535G>C	NP_001180473.1:n.*535G>C
NM_001363114.1:c.*535G>C	NP_001350043.1:n.*535G>C
NM_001155.5:c.*535G>C MANE Select	NP_001146.2:n.*535G>C
NM_001193544.2:c.*535G>C	NP_001180473.1:n.*535G>C
NM_001363114.2:c.*535G>C	NP_001350043.1:n.*535G>C