Canonical Allele Identifier: CA719188397
Gene: ABCA3 HGNC NCBI
ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1200535180
gnomAD v3: 16-2340619-C-G
gnomAD v4: 16-2340619-C-G
MyVariant Identifiers: chr16:g.2390620C>G (hg19) chr16:g.2340619C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340619C>G , CM000678.2:g.2340619C>G GRCh38
NC_000016.9:g.2390620C>G , CM000678.1:g.2390620C>G GRCh37
NC_000016.8:g.2330621C>G NCBI36
NG_011790.1:g.5128G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.-585G>C (ABCA3) MANE Select ENSP00000301732.5:n.-585G>C
ENST00000640929.1:n.42+1288C>G (ABCA17P)
ENST00000301732.9:c.-585G>C (ABCA3) ENSP00000301732.5:n.-585G>C
ENST00000382381.7:c.-585G>C (ABCA3) ENSP00000371818.3:n.-585G>C
ENST00000512848.5:n.182+1288C>G (ABCA17P)
NM_001089.2:c.-585G>C (ABCA3) NP_001080.2:n.-585G>C
NM_001089.3:c.-585G>C (ABCA3) MANE Select NP_001080.2:n.-585G>C
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