Canonical Allele Identifier: CA2119338

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs149363094
• ExAC: 2:220078564 G / A
• gnomAD v2: 2-220078564-G-A
• gnomAD v4: 2-219213842-G-A
• MyVariant Identifiers: chr2:g.220078564G>A (hg19) ; chr2:g.219213842G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219213842G>A , CM000664.2:g.219213842G>A	GRCh38
NC_000002.11:g.220078564G>A , CM000664.1:g.220078564G>A	GRCh37
NC_000002.10:g.219786808G>A	NCBI36
NG_032110.1:g.10149C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.1562C>T (ABCB6) MANE Select	ENSP00000265316.3:p.Thr521Ile
ENST00000295750.5:c.1424C>T (ABCB6)	ENSP00000295750.5:p.Thr475Ile
ENST00000265316.7:c.1562C>T (ABCB6)	ENSP00000265316.3:p.Thr521Ile
ENST00000295750.4:c.1105C>T (ABCB6)
ENST00000446716.5:c.4287C>T (ATG9A)
ENST00000448398.5:c.638C>T (ABCB6)
ENST00000494639.5:n.471C>T (ABCB6)
ENST00000497882.5:n.1875C>T (ABCB6)
NM_005689.2:c.1562C>T (ABCB6)	NP_005680.1:p.Thr521Ile
NM_001349828.1:c.1424C>T (ABCB6)	NP_001336757.1:p.Thr475Ile
NM_005689.3:c.1562C>T (ABCB6)	NP_005680.1:p.Thr521Ile
NM_005689.4:c.1562C>T (ABCB6) MANE Select	NP_005680.1:p.Thr521Ile
NM_001349828.2:c.1424C>T (ABCB6)	NP_001336757.1:p.Thr475Ile