Canonical Allele Identifier: CA350643678

Gene: ABCB6 ATG9A

Linked Data

• MyVariant Identifiers: chr2:g.220082900C>G (hg19) ; chr2:g.219218178C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219218178C>G , CM000664.2:g.219218178C>G	GRCh38
NC_000002.11:g.220082900C>G , CM000664.1:g.220082900C>G	GRCh37
NC_000002.10:g.219791144C>G	NCBI36
NG_032110.1:g.5813G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.496G>C (ABCB6) MANE Select	ENSP00000265316.3:p.Val166Leu
ENST00000295750.5:c.496G>C (ABCB6)	ENSP00000295750.5:p.Val166Leu
ENST00000265316.7:c.496G>C (ABCB6)	ENSP00000265316.3:p.Val166Leu
ENST00000295750.4:c.177G>C (ABCB6)
ENST00000417678.5:c.249G>C (ABCB6)
ENST00000446716.5:c.3035G>C (ATG9A)
ENST00000448398.5:c.299G>C (ABCB6)
ENST00000452545.1:c.13G>C (ABCB6)	ENSP00000401811.1:p.Val5Leu
NM_005689.2:c.496G>C (ABCB6)	NP_005680.1:p.Val166Leu
NM_001349828.1:c.496G>C (ABCB6)	NP_001336757.1:p.Val166Leu
NM_005689.3:c.496G>C (ABCB6)	NP_005680.1:p.Val166Leu
NM_005689.4:c.496G>C (ABCB6) MANE Select	NP_005680.1:p.Val166Leu
NM_001349828.2:c.496G>C (ABCB6)	NP_001336757.1:p.Val166Leu