Canonical Allele Identifier: CA2631187519
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2278171-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278171T>A , CM000678.2:g.2278171T>A GRCh38
NC_000016.9:g.2328172T>A , CM000678.1:g.2328172T>A GRCh37
NC_000016.8:g.2268173T>A NCBI36
NG_011790.1:g.67576A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4719-102A>T MANE Select ENSP00000301732.5:n.4719-102A>T
ENST00000301732.9:c.4719-102A>T ENSP00000301732.5:n.4719-102A>T
ENST00000382381.7:c.4545-102A>T ENSP00000371818.3:n.4545-102A>T
NM_001089.2:c.4719-102A>T NP_001080.2:n.4719-102A>T
NM_001089.3:c.4719-102A>T MANE Select NP_001080.2:n.4719-102A>T
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