Canonical Allele Identifier: CA3580797
Gene: SLC34A1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.177397784T>C
GRCh37 chr5:g.176824785T>C
Revel Score:
ENST00000324417 (MANE Select) 0.819
gnomAD v2:
5:176824785 T / C
gnomAD v3:
5:177397784 T / C
gnomAD v4:
chr5-177397784-T-C
Joint Max Group AF 0.00003587 (SAS)
Genomes Max Group AF 0.00002258 (AMR)
Exomes Max Group AF 0.00003765 (SAS)
ClinVar RCV:
RCV001367810
RCV002488141
ClinVar Variation:
1058648
dbSNP:
184668287
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177397784T>C , CM000667.2:g.177397784T>C GRCh38
NC_000005.9:g.176824785T>C , CM000667.1:g.176824785T>C GRCh37
NC_000005.8:g.176757391T>C NCBI36
NG_016223.1:g.18354T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324417.6:c.1418T>C MANE Select ENSP00000321424.4:p.Ile473Thr
ENST00000324417.5:c.1418T>C ENSP00000321424.4:p.Ile473Thr
ENST00000513614.1:n.1860T>C
NM_003052.4:c.1418T>C NP_003043.3:p.Ile473Thr
XM_005265975.1:c.1250T>C XP_005266032.1:p.Ile417Thr
XR_941112.1:n.2851T>C
XM_017009773.2:c.1416+710T>C XP_016865262.1:n.1416+710T>C
XM_017009774.1:c.470T>C XP_016865263.1:p.Ile157Thr
XM_024446191.1:c.1250T>C XP_024301959.1:p.Ile417Thr
XR_941112.2:n.2905T>C
NM_003052.5:c.1418T>C MANE Select NP_003043.3:p.Ile473Thr
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