Canonical Allele Identifier: CA7840530
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs779438352
ExAC: 16:2335565 T / C
gnomAD v2: 16-2335565-T-C
gnomAD v3: 16-2285564-T-C
gnomAD v4: 16-2285564-T-C
MyVariant Identifiers: chr16:g.2335565T>C (hg19) chr16:g.2285564T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285564T>C , CM000678.2:g.2285564T>C GRCh38
NC_000016.9:g.2335565T>C , CM000678.1:g.2335565T>C GRCh37
NC_000016.8:g.2275566T>C NCBI36
NG_011790.1:g.60183A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3361A>G MANE Select ENSP00000301732.5:p.Ser1121Gly
ENST00000301732.9:c.3361A>G ENSP00000301732.5:p.Ser1121Gly
ENST00000382381.7:c.3187A>G ENSP00000371818.3:p.Ser1063Gly
NM_001089.2:c.3361A>G NP_001080.2:p.Ser1121Gly
NM_001089.3:c.3361A>G MANE Select NP_001080.2:p.Ser1121Gly
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