Canonical Allele Identifier: CA276830161
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs533710519
gnomAD v2: 16-2349669-C-T
gnomAD v3: 16-2299668-C-T
gnomAD v4: 16-2299668-C-T
MyVariant Identifiers: chr16:g.2349669C>T (hg19) chr16:g.2299668C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2299668C>T , CM000678.2:g.2299668C>T GRCh38
NC_000016.9:g.2349669C>T , CM000678.1:g.2349669C>T GRCh37
NC_000016.8:g.2289670C>T NCBI36
NG_011790.1:g.46079G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.1612-136G>A MANE Select ENSP00000301732.5:n.1612-136G>A
ENST00000301732.9:c.1612-136G>A ENSP00000301732.5:n.1612-136G>A
ENST00000382381.7:c.1438-136G>A ENSP00000371818.3:n.1438-136G>A
ENST00000563623.5:n.2175-136G>A
NM_001089.2:c.1612-136G>A NP_001080.2:n.1612-136G>A
NM_001089.3:c.1612-136G>A MANE Select NP_001080.2:n.1612-136G>A
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