Canonical Allele Identifier: CA350643647

Gene: ABCB6 ATG9A

Linked Data

• gnomAD v4: 2-219218170-C-T
• MyVariant Identifiers: chr2:g.220082892C>T (hg19) ; chr2:g.219218170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219218170C>T , CM000664.2:g.219218170C>T	GRCh38
NC_000002.11:g.220082892C>T , CM000664.1:g.220082892C>T	GRCh37
NC_000002.10:g.219791136C>T	NCBI36
NG_032110.1:g.5821G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.504G>A (ABCB6) MANE Select	ENSP00000265316.3:p.Trp168Ter
ENST00000295750.5:c.504G>A (ABCB6)	ENSP00000295750.5:p.Trp168Ter
ENST00000265316.7:c.504G>A (ABCB6)	ENSP00000265316.3:p.Trp168Ter
ENST00000295750.4:c.185G>A (ABCB6)
ENST00000417678.5:c.257G>A (ABCB6)
ENST00000446716.5:c.3043G>A (ATG9A)
ENST00000448398.5:c.307G>A (ABCB6)
ENST00000452545.1:c.21G>A (ABCB6)	ENSP00000401811.1:p.Trp7Ter
NM_005689.2:c.504G>A (ABCB6)	NP_005680.1:p.Trp168Ter
NM_001349828.1:c.504G>A (ABCB6)	NP_001336757.1:p.Trp168Ter
NM_005689.3:c.504G>A (ABCB6)	NP_005680.1:p.Trp168Ter
NM_005689.4:c.504G>A (ABCB6) MANE Select	NP_005680.1:p.Trp168Ter
NM_001349828.2:c.504G>A (ABCB6)	NP_001336757.1:p.Trp168Ter