Canonical Allele Identifier: CA2663214489

Gene: ABCB6 ATG9A

Linked Data

• gnomAD v4: 2-219218079-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219218079C>A , CM000664.2:g.219218079C>A	GRCh38
NC_000002.11:g.220082801C>A , CM000664.1:g.220082801C>A	GRCh37
NC_000002.10:g.219791045C>A	NCBI36
NG_032110.1:g.5912G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.549+46G>T (ABCB6) MANE Select	ENSP00000265316.3:n.549+46G>T
ENST00000295750.5:c.549+46G>T (ABCB6)	ENSP00000295750.5:n.549+46G>T
ENST00000265316.7:c.549+46G>T (ABCB6)	ENSP00000265316.3:n.549+46G>T
ENST00000295750.4:c.230+46G>T (ABCB6)
ENST00000417678.5:c.302+46G>T (ABCB6)
ENST00000446716.5:c.3088+46G>T (ATG9A)
ENST00000448398.5:c.352+46G>T (ABCB6)
ENST00000452545.1:c.66+46G>T (ABCB6)	ENSP00000401811.1:n.66+46G>T
NM_005689.2:c.549+46G>T (ABCB6)	NP_005680.1:n.549+46G>T
NM_001349828.1:c.549+46G>T (ABCB6)	NP_001336757.1:n.549+46G>T
NM_005689.3:c.549+46G>T (ABCB6)	NP_005680.1:n.549+46G>T
NM_005689.4:c.549+46G>T (ABCB6) MANE Select	NP_005680.1:n.549+46G>T
NM_001349828.2:c.549+46G>T (ABCB6)	NP_001336757.1:n.549+46G>T