Canonical Allele Identifier: CA2119237

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219213284C>T , CM000664.2:g.219213284C>T	GRCh38
NC_000002.11:g.220078006C>T , CM000664.1:g.220078006C>T	GRCh37
NC_000002.10:g.219786250C>T	NCBI36
NG_032110.1:g.10707G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005689.4:c.1762G>A (ABCB6) MANE Select	NP_005680.1:p.Gly588Ser
ENST00000265316.9:c.1762G>A (ABCB6) MANE Select	ENSP00000265316.3:p.Gly588Ser
NM_001349828.1:c.1624G>A (ABCB6)	NP_001336757.1:p.Gly542Ser
NM_001349828.2:c.1624G>A (ABCB6)	NP_001336757.1:p.Gly542Ser
NM_005689.2:c.1762G>A (ABCB6)	NP_005680.1:p.Gly588Ser
NM_005689.3:c.1762G>A (ABCB6)	NP_005680.1:p.Gly588Ser
ENST00000265316.7:c.1762G>A (ABCB6)	ENSP00000265316.3:p.Gly588Ser
ENST00000295750.4:c.1305G>A (ABCB6)
ENST00000295750.5:c.1624G>A (ABCB6)	ENSP00000295750.5:p.Gly542Ser
ENST00000446716.5:c.4487G>A (ATG9A)
ENST00000448398.5:c.838G>A (ABCB6)
ENST00000492543.1:n.137G>A (ABCB6)
ENST00000497882.5:n.2075G>A (ABCB6)