Canonical Allele Identifier: CA221639250

Gene: CKAP5

Linked Data

• dbSNP Id: rs546342908
• gnomAD v2: 11-46849472-G-A
• gnomAD v3: 11-46827921-G-A
• gnomAD v4: 11-46827921-G-A
• MyVariant Identifiers: chr11:g.46849472G>A (hg19) ; chr11:g.46827921G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46827921G>A , CM000673.2:g.46827921G>A	GRCh38
NC_000011.9:g.46849472G>A , CM000673.1:g.46849472G>A	GRCh37
NC_000011.8:g.46806048G>A	NCBI36
NG_029924.1:g.23388C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529230.6:c.-37-6653C>T MANE Select	ENSP00000432768.1:n.-37-6653C>T
ENST00000312055.9:c.-37-6653C>T	ENSP00000310227.5:n.-37-6653C>T
ENST00000525248.1:n.78-6673C>T
ENST00000529230.5:c.-37-6653C>T	ENSP00000432768.1:n.-37-6653C>T
NM_001008938.3:c.-37-6653C>T	NP_001008938.1:n.-37-6653C>T
NM_014756.3:c.-37-6653C>T	NP_055571.2:n.-37-6653C>T
NM_001008938.4:c.-37-6653C>T MANE Select	NP_001008938.1:n.-37-6653C>T
NM_014756.4:c.-37-6653C>T	NP_055571.2:n.-37-6653C>T