Canonical Allele Identifier: CA493125694
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1355266137
gnomAD v2: 16-2335584-C-G
gnomAD v4: 16-2285583-C-G
MyVariant Identifiers: chr16:g.2335584C>G (hg19) chr16:g.2285583C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285583C>G , CM000678.2:g.2285583C>G GRCh38
NC_000016.9:g.2335584C>G , CM000678.1:g.2335584C>G GRCh37
NC_000016.8:g.2275585C>G NCBI36
NG_011790.1:g.60164G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3342G>C MANE Select ENSP00000301732.5:p.Thr1114=
ENST00000301732.9:c.3342G>C ENSP00000301732.5:p.Thr1114=
ENST00000382381.7:c.3168G>C ENSP00000371818.3:p.Thr1056=
NM_001089.2:c.3342G>C NP_001080.2:p.Thr1114=
NM_001089.3:c.3342G>C MANE Select NP_001080.2:p.Thr1114=
Search 100 bp 5'
Search 100 bp 3'