Canonical Allele Identifier: CA346473139
Gene: ALK HGNC NCBI

Linked Data

gnomAD v4: 2-29220807-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29220807A>C , CM000664.2:g.29220807A>C GRCh38
NC_000002.11:g.29443673A>C , CM000664.1:g.29443673A>C GRCh37
NC_000002.10:g.29297177A>C NCBI36
NG_009445.1:g.705760T>G , LRG_488:g.705760T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3544T>G MANE Select ENSP00000373700.3:p.Cys1182Gly
ENST00000431873.6:c.771T>G
ENST00000638605.1:n.421T>G
ENST00000642122.1:c.340T>G ENSP00000493203.1:p.Cys114Gly
ENST00000389048.7:c.3544T>G ENSP00000373700.3:p.Cys1182Gly
ENST00000431873.5:c.424T>G ENSP00000414027.2:p.Cys142Gly
ENST00000618119.4:c.2413T>G ENSP00000482733.1:p.Cys805Gly
NM_004304.4:c.3544T>G NP_004295.2:p.Cys1182Gly
NM_001353765.1:c.340T>G NP_001340694.1:p.Cys114Gly
XM_024452778.1:c.697T>G XP_024308546.1:p.Cys233Gly
XM_024452779.1:c.340T>G XP_024308547.1:p.Cys114Gly
NM_004304.5:c.3544T>G MANE Select NP_004295.2:p.Cys1182Gly
NM_001353765.2:c.340T>G NP_001340694.1:p.Cys114Gly