Canonical Allele Identifier: CA16143774
Gene: FAM107A HGNC NCBI

Linked Data

dbSNP Id: rs13315591
gnomAD v2: 3-58556841-T-C
gnomAD v3: 3-58571114-T-C
gnomAD v4: 3-58571114-T-C
MyVariant Identifiers: chr3:g.58556841T>C (hg19) chr3:g.58571114T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58571114T>C , CM000665.2:g.58571114T>C GRCh38
NC_000003.11:g.58556841T>C , CM000665.1:g.58556841T>C GRCh37
NC_000003.10:g.58531881T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360997.7:c.-5-1249A>G MANE Select ENSP00000354270.2:n.-5-1249A>G
ENST00000649301.1:c.-103-691A>G ENSP00000497152.1:n.-103-691A>G
ENST00000360997.6:c.-5-1249A>G ENSP00000354270.2:n.-5-1249A>G
ENST00000394481.5:c.-103-691A>G ENSP00000377991.1:n.-103-691A>G
ENST00000447756.2:c.80-1249A>G ENSP00000400858.2:n.80-1249A>G
ENST00000464064.5:c.-5-1249A>G ENSP00000419529.1:n.-5-1249A>G
ENST00000465970.1:c.-5-1249A>G ENSP00000418038.1:n.-5-1249A>G
ENST00000474531.5:c.89-1249A>G ENSP00000419124.1:n.89-1249A>G
NM_001076778.2:c.-5-1249A>G NP_001070246.1:n.-5-1249A>G
NM_001282713.1:c.80-1249A>G NP_001269642.1:n.80-1249A>G
NM_001282714.1:c.89-1249A>G NP_001269643.1:n.89-1249A>G
NM_007177.3:c.-103-691A>G NP_009108.1:n.-103-691A>G
XM_005264835.2:c.-5-1249A>G XP_005264892.1:n.-5-1249A>G
XR_001740721.1:n.278-1633T>C
XR_001740722.2:n.685T>C
XR_001740724.1:n.278-1633T>C
NM_001076778.3:c.-5-1249A>G MANE Select NP_001070246.1:n.-5-1249A>G
NM_001282713.2:c.80-1249A>G NP_001269642.1:n.80-1249A>G
NM_001282714.2:c.89-1249A>G NP_001269643.1:n.89-1249A>G
NM_007177.4:c.-103-691A>G NP_009108.1:n.-103-691A>G
Search 100 bp 5'
Search 100 bp 3'