Canonical Allele Identifier: CA350682723

Gene: ABCB6 ATG9A

Linked Data

• gnomAD v4: 2-219210716-C-A
• MyVariant Identifiers: chr2:g.220075438C>A (hg19) ; chr2:g.219210716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210716C>A , CM000664.2:g.219210716C>A	GRCh38
NC_000002.11:g.220075438C>A , CM000664.1:g.220075438C>A	GRCh37
NC_000002.10:g.219783682C>A	NCBI36
NG_032110.1:g.13275G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2251G>T (ABCB6) MANE Select	ENSP00000265316.3:p.Asp751Tyr
ENST00000295750.5:c.2113G>T (ABCB6)	ENSP00000295750.5:p.Asp705Tyr
ENST00000265316.7:c.2251G>T (ABCB6)	ENSP00000265316.3:p.Asp751Tyr
ENST00000295750.4:c.1794G>T (ABCB6)
ENST00000443805.1:c.239G>T (ABCB6)
ENST00000446716.5:c.4801G>T (ATG9A)
ENST00000485773.5:n.283G>T (ABCB6)
ENST00000487380.5:n.324G>T (ABCB6)
ENST00000492543.1:n.801G>T (ABCB6)
ENST00000497882.5:n.2564G>T (ABCB6)
NM_005689.2:c.2251G>T (ABCB6)	NP_005680.1:p.Asp751Tyr
NM_001349828.1:c.2113G>T (ABCB6)	NP_001336757.1:p.Asp705Tyr
NM_005689.3:c.2251G>T (ABCB6)	NP_005680.1:p.Asp751Tyr
NM_005689.4:c.2251G>T (ABCB6) MANE Select	NP_005680.1:p.Asp751Tyr
NM_001349828.2:c.2113G>T (ABCB6)	NP_001336757.1:p.Asp705Tyr