Canonical Allele Identifier: CA276822638
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs534804509
gnomAD v2: 16-2335538-C-A
gnomAD v4: 16-2285537-C-A
MyVariant Identifiers: chr16:g.2335538C>A (hg19) chr16:g.2285537C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285537C>A , CM000678.2:g.2285537C>A GRCh38
NC_000016.9:g.2335538C>A , CM000678.1:g.2335538C>A GRCh37
NC_000016.8:g.2275539C>A NCBI36
NG_011790.1:g.60210G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3388G>T MANE Select ENSP00000301732.5:p.Val1130Leu
ENST00000301732.9:c.3388G>T ENSP00000301732.5:p.Val1130Leu
ENST00000382381.7:c.3214G>T ENSP00000371818.3:p.Val1072Leu
NM_001089.2:c.3388G>T NP_001080.2:p.Val1130Leu
NM_001089.3:c.3388G>T MANE Select NP_001080.2:p.Val1130Leu
Search 100 bp 5'
Search 100 bp 3'