Canonical Allele Identifier: CA533201814

Gene: AAK1

Linked Data

• dbSNP Id: rs1221719566
• gnomAD v2: 2-69813489-C-T
• gnomAD v3: 2-69586357-C-T
• gnomAD v4: 2-69586357-C-T
• MyVariant Identifiers: chr2:g.69813489C>T (hg19) ; chr2:g.69586357C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69586357C>T , CM000664.2:g.69586357C>T	GRCh38
NC_000002.11:g.69813489C>T , CM000664.1:g.69813489C>T	GRCh37
NC_000002.10:g.69666993C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000606389.8:c.164-29379G>A	ENSP00000485350.2:n.164-29379G>A
ENST00000409085.9:c.164-29379G>A MANE Select	ENSP00000386456.3:n.164-29379G>A
ENST00000606389.7:c.164-29379G>A	ENSP00000485350.2:n.164-29379G>A
ENST00000406297.7:c.164-29379G>A	ENSP00000385181.3:n.164-29379G>A
ENST00000409068.5:c.164-29379G>A	ENSP00000386342.1:n.164-29379G>A
ENST00000409085.8:c.164-29379G>A	ENSP00000386456.3:n.164-29379G>A
ENST00000495836.1:n.541-29379G>A
NM_014911.3:c.164-29379G>A	NP_055726.3:n.164-29379G>A
NM_014911.4:c.164-29379G>A	NP_055726.3:n.164-29379G>A
NM_001371575.1:c.164-29379G>A	NP_001358504.1:n.164-29379G>A
NM_001371577.1:c.164-29379G>A	NP_001358506.1:n.164-29379G>A
NM_014911.5:c.164-29379G>A MANE Select	NP_055726.4:n.164-29379G>A