Canonical Allele Identifier: CA44665019
Gene: ALK HGNC NCBI

Linked Data

dbSNP Id: rs948941108
gnomAD v3: 2-29328680-C-G
gnomAD v4: 2-29328680-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29328680C>G , CM000664.2:g.29328680C>G GRCh38
NC_000002.11:g.29551546C>G , CM000664.1:g.29551546C>G GRCh37
NC_000002.10:g.29405050C>G NCBI36
NG_009445.1:g.597887G>C , LRG_488:g.597887G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1283-199G>C MANE Select ENSP00000373700.3:n.1283-199G>C
ENST00000389048.7:c.1283-199G>C ENSP00000373700.3:n.1283-199G>C
ENST00000618119.4:c.152-199G>C ENSP00000482733.1:n.152-199G>C
NM_004304.4:c.1283-199G>C NP_004295.2:n.1283-199G>C
XR_939920.1:n.817+171C>G
XR_939921.1:n.680+6152C>G
XR_001738688.2:n.2213-199G>C
XR_939920.2:n.707+171C>G
XR_939921.2:n.576+6152C>G
NM_004304.5:c.1283-199G>C MANE Select NP_004295.2:n.1283-199G>C