Canonical Allele Identifier: CA14397793
Gene: SLC47A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.19533874T>C
GRCh37 chr17:g.19437187T>C
gnomAD v2:
17:19437187 T / C
gnomAD v3:
17:19533874 T / C
gnomAD v4:
chr17-19533874-T-C
Joint Max Group AF 0.37229053 (AFR)
Genomes Max Group AF 0.36937319 (AFR)
Exomes Max Group AF 0.372776 (AFR)
dbSNP:
2252281
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19533874T>C , CM000679.2:g.19533874T>C GRCh38
NC_000017.10:g.19437187T>C , CM000679.1:g.19437187T>C GRCh37
NC_000017.9:g.19377779T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270570.8:c.-66T>C MANE Select ENSP00000270570.4:n.-66T>C
ENST00000436810.6:c.-66T>C ENSP00000407155.2:n.-66T>C
ENST00000571335.5:c.-311+303T>C ENSP00000462630.1:n.-311+303T>C
ENST00000574596.1:n.15T>C
ENST00000584348.5:n.98-8519T>C
NM_018242.2:c.-66T>C NP_060712.2:n.-66T>C
NM_018242.3:c.-66T>C MANE Select NP_060712.2:n.-66T>C
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