Canonical Allele Identifier: CA719135770
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1189207892
gnomAD v3: 16-2289371-C-A
gnomAD v4: 16-2289371-C-A
MyVariant Identifiers: chr16:g.2339372C>A (hg19) chr16:g.2289371C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289371C>A , CM000678.2:g.2289371C>A GRCh38
NC_000016.9:g.2339372C>A , CM000678.1:g.2339372C>A GRCh37
NC_000016.8:g.2279373C>A NCBI36
NG_011790.1:g.56376G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2700+63G>T MANE Select ENSP00000301732.5:n.2700+63G>T
ENST00000301732.9:c.2700+63G>T ENSP00000301732.5:n.2700+63G>T
ENST00000382381.7:c.2526+63G>T ENSP00000371818.3:n.2526+63G>T
ENST00000563623.5:n.3326G>T
NM_001089.2:c.2700+63G>T NP_001080.2:n.2700+63G>T
NM_001089.3:c.2700+63G>T MANE Select NP_001080.2:n.2700+63G>T
Search 100 bp 5'
Search 100 bp 3'