Canonical Allele Identifier: CA493124695
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1383860750
gnomAD v2: 16-2335518-G-A
gnomAD v4: 16-2285517-G-A
MyVariant Identifiers: chr16:g.2335518G>A (hg19) chr16:g.2285517G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285517G>A , CM000678.2:g.2285517G>A GRCh38
NC_000016.9:g.2335518G>A , CM000678.1:g.2335518G>A GRCh37
NC_000016.8:g.2275519G>A NCBI36
NG_011790.1:g.60230C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3408C>T MANE Select ENSP00000301732.5:p.Val1136=
ENST00000301732.9:c.3408C>T ENSP00000301732.5:p.Val1136=
ENST00000382381.7:c.3234C>T ENSP00000371818.3:p.Val1078=
NM_001089.2:c.3408C>T NP_001080.2:p.Val1136=
NM_001089.3:c.3408C>T MANE Select NP_001080.2:p.Val1136=
Search 100 bp 5'
Search 100 bp 3'