Canonical Allele Identifier: CA1259175386
Gene: AAK1 HGNC NCBI

Linked Data

dbSNP Id: rs1312578067

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.69586364T>G , CM000664.2:g.69586364T>G GRCh38
NC_000002.11:g.69813496T>G , CM000664.1:g.69813496T>G GRCh37
NC_000002.10:g.69667000T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000606389.8:c.164-29386A>C ENSP00000485350.2:n.164-29386A>C
ENST00000409085.9:c.164-29386A>C MANE Select ENSP00000386456.3:n.164-29386A>C
ENST00000606389.7:c.164-29386A>C ENSP00000485350.2:n.164-29386A>C
ENST00000406297.7:c.164-29386A>C ENSP00000385181.3:n.164-29386A>C
ENST00000409068.5:c.164-29386A>C ENSP00000386342.1:n.164-29386A>C
ENST00000409085.8:c.164-29386A>C ENSP00000386456.3:n.164-29386A>C
ENST00000495836.1:n.541-29386A>C
NM_014911.3:c.164-29386A>C NP_055726.3:n.164-29386A>C
NM_014911.4:c.164-29386A>C NP_055726.3:n.164-29386A>C
NM_001371575.1:c.164-29386A>C NP_001358504.1:n.164-29386A>C
NM_001371577.1:c.164-29386A>C NP_001358506.1:n.164-29386A>C
NM_014911.5:c.164-29386A>C MANE Select NP_055726.4:n.164-29386A>C