Canonical Allele Identifier: CA493168757
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1381017834
gnomAD v2: 16-2376417-C-T
gnomAD v4: 16-2326416-C-T
MyVariant Identifiers: chr16:g.2376417C>T (hg19) chr16:g.2326416C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326416C>T , CM000678.2:g.2326416C>T GRCh38
NC_000016.9:g.2376417C>T , CM000678.1:g.2376417C>T GRCh37
NC_000016.8:g.2316418C>T NCBI36
NG_011790.1:g.19331G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.51G>A MANE Select ENSP00000301732.5:p.Leu17=
ENST00000301732.9:c.51G>A ENSP00000301732.5:p.Leu17=
ENST00000382381.7:c.51G>A ENSP00000371818.3:p.Leu17=
ENST00000563623.5:n.614G>A
ENST00000567910.1:c.51G>A ENSP00000454397.1:p.Leu17=
NM_001089.2:c.51G>A NP_001080.2:p.Leu17=
NM_001089.3:c.51G>A MANE Select NP_001080.2:p.Leu17=
Search 100 bp 5'
Search 100 bp 3'