Canonical Allele Identifier: CA350635106

Gene: ABCB6 ATG9A

Linked Data

• MyVariant Identifiers: chr2:g.220078561T>G (hg19) ; chr2:g.219213839T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219213839T>G , CM000664.2:g.219213839T>G	GRCh38
NC_000002.11:g.220078561T>G , CM000664.1:g.220078561T>G	GRCh37
NC_000002.10:g.219786805T>G	NCBI36
NG_032110.1:g.10152A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.1565A>C (ABCB6) MANE Select	ENSP00000265316.3:p.Glu522Ala
ENST00000295750.5:c.1427A>C (ABCB6)	ENSP00000295750.5:p.Glu476Ala
ENST00000265316.7:c.1565A>C (ABCB6)	ENSP00000265316.3:p.Glu522Ala
ENST00000295750.4:c.1108A>C (ABCB6)
ENST00000446716.5:c.4290A>C (ATG9A)
ENST00000448398.5:c.641A>C (ABCB6)
ENST00000494639.5:n.474A>C (ABCB6)
ENST00000497882.5:n.1878A>C (ABCB6)
NM_005689.2:c.1565A>C (ABCB6)	NP_005680.1:p.Glu522Ala
NM_001349828.1:c.1427A>C (ABCB6)	NP_001336757.1:p.Glu476Ala
NM_005689.3:c.1565A>C (ABCB6)	NP_005680.1:p.Glu522Ala
NM_005689.4:c.1565A>C (ABCB6) MANE Select	NP_005680.1:p.Glu522Ala
NM_001349828.2:c.1427A>C (ABCB6)	NP_001336757.1:p.Glu476Ala