Canonical Allele Identifier: CA350643649

Gene: ABCB6 ATG9A

Linked Data

• MyVariant Identifiers: chr2:g.220082893C>A (hg19) ; chr2:g.219218171C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219218171C>A , CM000664.2:g.219218171C>A	GRCh38
NC_000002.11:g.220082893C>A , CM000664.1:g.220082893C>A	GRCh37
NC_000002.10:g.219791137C>A	NCBI36
NG_032110.1:g.5820G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.503G>T (ABCB6) MANE Select	ENSP00000265316.3:p.Trp168Leu
ENST00000295750.5:c.503G>T (ABCB6)	ENSP00000295750.5:p.Trp168Leu
ENST00000265316.7:c.503G>T (ABCB6)	ENSP00000265316.3:p.Trp168Leu
ENST00000295750.4:c.184G>T (ABCB6)
ENST00000417678.5:c.256G>T (ABCB6)
ENST00000446716.5:c.3042G>T (ATG9A)
ENST00000448398.5:c.306G>T (ABCB6)
ENST00000452545.1:c.20G>T (ABCB6)	ENSP00000401811.1:p.Trp7Leu
NM_005689.2:c.503G>T (ABCB6)	NP_005680.1:p.Trp168Leu
NM_001349828.1:c.503G>T (ABCB6)	NP_001336757.1:p.Trp168Leu
NM_005689.3:c.503G>T (ABCB6)	NP_005680.1:p.Trp168Leu
NM_005689.4:c.503G>T (ABCB6) MANE Select	NP_005680.1:p.Trp168Leu
NM_001349828.2:c.503G>T (ABCB6)	NP_001336757.1:p.Trp168Leu