Canonical Allele Identifier: CA7840516
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs780850241
ExAC: 16:2335511 C / A
gnomAD v2: 16-2335511-C-A
gnomAD v4: 16-2285510-C-A
MyVariant Identifiers: chr16:g.2335511C>A (hg19) chr16:g.2285510C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285510C>A , CM000678.2:g.2285510C>A GRCh38
NC_000016.9:g.2335511C>A , CM000678.1:g.2335511C>A GRCh37
NC_000016.8:g.2275512C>A NCBI36
NG_011790.1:g.60237G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.3415G>T MANE Select ENSP00000301732.5:p.Ala1139Ser
ENST00000301732.9:c.3415G>T ENSP00000301732.5:p.Ala1139Ser
ENST00000382381.7:c.3241G>T ENSP00000371818.3:p.Ala1081Ser
NM_001089.2:c.3415G>T NP_001080.2:p.Ala1139Ser
NM_001089.3:c.3415G>T MANE Select NP_001080.2:p.Ala1139Ser
Search 100 bp 5'
Search 100 bp 3'