Canonical Allele Identifier: CA7839974
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs760502574
ExAC: 16:2327829 A / C
gnomAD v2: 16-2327829-A-C
gnomAD v4: 16-2277828-A-C
MyVariant Identifiers: chr16:g.2327829A>C (hg19) chr16:g.2277828A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277828A>C , CM000678.2:g.2277828A>C GRCh38
NC_000016.9:g.2327829A>C , CM000678.1:g.2327829A>C GRCh37
NC_000016.8:g.2267830A>C NCBI36
NG_011790.1:g.67919T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.4909+51T>G MANE Select ENSP00000301732.5:n.4909+51T>G
ENST00000301732.9:c.4909+51T>G ENSP00000301732.5:n.4909+51T>G
ENST00000382381.7:c.4735+51T>G ENSP00000371818.3:n.4735+51T>G
NM_001089.2:c.4909+51T>G NP_001080.2:n.4909+51T>G
NM_001089.3:c.4909+51T>G MANE Select NP_001080.2:n.4909+51T>G
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