Canonical Allele Identifier: CA7840068
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs770870190
ExAC: 16:2328431 C / T
gnomAD v2: 16-2328431-C-T
gnomAD v3: 16-2278430-C-T
gnomAD v4: 16-2278430-C-T
MyVariant Identifiers: chr16:g.2328431C>T (hg19) chr16:g.2278430C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278430C>T , CM000678.2:g.2278430C>T GRCh38
NC_000016.9:g.2328431C>T , CM000678.1:g.2328431C>T GRCh37
NC_000016.8:g.2268432C>T NCBI36
NG_011790.1:g.67317G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4576G>A MANE Select ENSP00000301732.5:p.Gly1526Ser
ENST00000301732.9:c.4576G>A ENSP00000301732.5:p.Gly1526Ser
ENST00000382381.7:c.4402G>A ENSP00000371818.3:p.Gly1468Ser
ENST00000566200.1:n.1097G>A
NM_001089.2:c.4576G>A NP_001080.2:p.Gly1526Ser
NM_001089.3:c.4576G>A MANE Select NP_001080.2:p.Gly1526Ser
Search 100 bp 5'
Search 100 bp 3'