Canonical Allele Identifier: CA1259175388

Gene: AAK1

Linked Data

• dbSNP Id: rs1672764029

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69586366A>C , CM000664.2:g.69586366A>C	GRCh38
NC_000002.11:g.69813498A>C , CM000664.1:g.69813498A>C	GRCh37
NC_000002.10:g.69667002A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000606389.8:c.164-29388T>G	ENSP00000485350.2:n.164-29388T>G
ENST00000409085.9:c.164-29388T>G MANE Select	ENSP00000386456.3:n.164-29388T>G
ENST00000606389.7:c.164-29388T>G	ENSP00000485350.2:n.164-29388T>G
ENST00000406297.7:c.164-29388T>G	ENSP00000385181.3:n.164-29388T>G
ENST00000409068.5:c.164-29388T>G	ENSP00000386342.1:n.164-29388T>G
ENST00000409085.8:c.164-29388T>G	ENSP00000386456.3:n.164-29388T>G
ENST00000495836.1:n.541-29388T>G
NM_014911.3:c.164-29388T>G	NP_055726.3:n.164-29388T>G
NM_014911.4:c.164-29388T>G	NP_055726.3:n.164-29388T>G
NM_001371575.1:c.164-29388T>G	NP_001358504.1:n.164-29388T>G
NM_001371577.1:c.164-29388T>G	NP_001358506.1:n.164-29388T>G
NM_014911.5:c.164-29388T>G MANE Select	NP_055726.4:n.164-29388T>G