Canonical Allele Identifier: CA3580439
Gene: SLC34A1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.177387809G>A
GRCh37 chr5:g.176814810G>A
Revel Score:
ENST00000512593 0.966
ENST00000324417 (MANE Select) 0.966
gnomAD v2:
5:176814810 G / A
gnomAD v3:
5:177387809 G / A
gnomAD v4:
chr5-177387809-G-A
Joint Max Group AF 0.00001426 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001583 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177387809G>A , CM000667.2:g.177387809G>A GRCh38
NC_000005.9:g.176814810G>A , CM000667.1:g.176814810G>A GRCh37
NC_000005.8:g.176747416G>A NCBI36
NG_016223.1:g.8379G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324417.6:c.580G>A MANE Select ENSP00000321424.4:p.Gly194Ser
ENST00000324417.5:c.580G>A ENSP00000321424.4:p.Gly194Ser
ENST00000507685.5:n.664G>A
ENST00000512593.5:c.580G>A ENSP00000423022.1:p.Gly194Ser
NM_001167579.1:c.580G>A NP_001161051.1:p.Gly194Ser
NM_003052.4:c.580G>A NP_003043.3:p.Gly194Ser
XM_005265975.1:c.580G>A XP_005266032.1:p.Gly194Ser
XR_941112.1:n.627G>A
XR_941113.1:n.627G>A
XM_017009773.2:c.580G>A XP_016865262.1:p.Gly194Ser
XM_017009775.2:c.580G>A XP_016865264.1:p.Gly194Ser
XM_024446191.1:c.580G>A XP_024301959.1:p.Gly194Ser
XR_941112.2:n.681G>A
XR_941113.2:n.681G>A
NM_003052.5:c.580G>A MANE Select NP_003043.3:p.Gly194Ser
NM_001167579.2:c.580G>A NP_001161051.1:p.Gly194Ser
Search 100 bp 5'
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