Canonical Allele Identifier: CA129262
Gene: ABCB6 HGNC NCBI
ATG9A HGNC NCBI
ClinVar RCV:
RCV000023440
RCV002247384
RCV002513189
ClinVar Variation:
30483
dbSNP:
387906911
gnomAD v2:
2:220083227 C / T
gnomAD v3:
2:219218505 C / T
gnomAD v4:
chr2-219218505-C-T
Joint Max Group AF 0.00110938 (SAS)
Genomes Max Group AF 0.00016873 (SAS)
Exomes Max Group AF 0.00113983 (SAS)
MyVariant.info:
GRCh38 chr2:g.219218505C>T
GRCh37 chr2:g.220083227C>T
Revel Score:
ENST00000265316 (MANE Select) 0.505
ENST00000439002 0.505
ENST00000427013 0.505
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219218505C>T , CM000664.2:g.219218505C>T GRCh38
NC_000002.11:g.220083227C>T , CM000664.1:g.220083227C>T GRCh37
NC_000002.10:g.219791471C>T NCBI36
NG_032110.1:g.5486G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265316.9:c.169G>A (ABCB6) MANE Select ENSP00000265316.3:p.Ala57Thr
ENST00000295750.5:c.169G>A (ABCB6) ENSP00000295750.5:p.Ala57Thr
ENST00000265316.7:c.169G>A (ABCB6) ENSP00000265316.3:p.Ala57Thr
ENST00000446716.5:c.2708G>A (ATG9A)
NM_005689.2:c.169G>A (ABCB6) NP_005680.1:p.Ala57Thr
NM_001349828.1:c.169G>A (ABCB6) NP_001336757.1:p.Ala57Thr
NM_005689.3:c.169G>A (ABCB6) NP_005680.1:p.Ala57Thr
NM_005689.4:c.169G>A (ABCB6) MANE Select NP_005680.1:p.Ala57Thr
NM_001349828.2:c.169G>A (ABCB6) NP_001336757.1:p.Ala57Thr
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