Canonical Allele Identifier: CA764957960

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs1254404290
• gnomAD v3: 2-219213766-C-T
• gnomAD v4: 2-219213766-C-T
• MyVariant Identifiers: chr2:g.220078488C>T (hg19) ; chr2:g.219213766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219213766C>T , CM000664.2:g.219213766C>T	GRCh38
NC_000002.11:g.220078488C>T , CM000664.1:g.220078488C>T	GRCh37
NC_000002.10:g.219786732C>T	NCBI36
NG_032110.1:g.10225G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.1578+60G>A (ABCB6) MANE Select	ENSP00000265316.3:n.1578+60G>A
ENST00000295750.5:c.1440+60G>A (ABCB6)	ENSP00000295750.5:n.1440+60G>A
ENST00000265316.7:c.1578+60G>A (ABCB6)	ENSP00000265316.3:n.1578+60G>A
ENST00000295750.4:c.1121+60G>A (ABCB6)
ENST00000446716.5:c.4303+60G>A (ATG9A)
ENST00000448398.5:c.654+60G>A (ABCB6)
ENST00000494639.5:n.487+60G>A (ABCB6)
ENST00000497882.5:n.1891+60G>A (ABCB6)
NM_005689.2:c.1578+60G>A (ABCB6)	NP_005680.1:n.1578+60G>A
NM_001349828.1:c.1440+60G>A (ABCB6)	NP_001336757.1:n.1440+60G>A
NM_005689.3:c.1578+60G>A (ABCB6)	NP_005680.1:n.1578+60G>A
NM_005689.4:c.1578+60G>A (ABCB6) MANE Select	NP_005680.1:n.1578+60G>A
NM_001349828.2:c.1440+60G>A (ABCB6)	NP_001336757.1:n.1440+60G>A