Canonical Allele Identifier: CA127340
Gene: SLC14A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17717
ClinVar RCV Id: RCV000019290
dbSNP Id: rs1058396

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45739554G>A , CM000680.2:g.45739554G>A GRCh38
NC_000018.9:g.43319519G>A , CM000680.1:g.43319519G>A GRCh37
NC_000018.8:g.41573517G>A NCBI36
NG_011775.3:g.20428G>A
NG_011775.4:g.57530G>A

Transcript Alleles

HGVS Amino-acid change
NM_001128588.3:c.1006G>A VV NP_001122060.3:p.Asp336Asn
NM_001146036.2:c.838G>A VV NP_001139508.2:p.Asp280Asn
NM_001146037.1:c.1006G>A VV NP_001139509.1:p.Asp336Asn
NM_001308278.1:c.523G>A VV NP_001295207.1:p.Asp175Asn
NM_001308279.1:c.442G>A VV NP_001295208.1:p.Asp148Asn
NM_015865.6:c.838G>A VV NP_056949.4:p.Asp280Asn
XM_005258329.1:c.1006G>A XP_005258386.1:p.Asp336Asn
XM_005258333.1:c.442G>A XP_005258390.1:p.Asp148Asn
XM_006722526.2:c.943G>A XP_006722589.1:p.Asp315Asn
XM_011526141.1:c.943G>A XP_011524443.1:p.Asp315Asn
XM_011526142.1:c.943G>A XP_011524444.1:p.Asp315Asn
XM_011526143.1:c.1006G>A XP_011524445.1:p.Asp336Asn
XM_011526144.1:c.1006G>A XP_011524446.1:p.Asp336Asn
XR_935425.1:n.680-1960C>T
NM_015865.7:c.838G>A VV MANE Preferred
XM_006722526.3:c.943G>A
XM_024451238.1:c.838G>A XP_024307006.1:p.Asp280Asn
XR_001753266.1:n.1204G>A
XR_001753561.1:n.529-1960C>T
XR_935423.2:n.698-1960C>T
ENST00000321925.8:c.838G>A ENSP00000318546.4:p.Asp280Asn
ENST00000402943.6:c.523G>A ENSP00000385320.2:p.Asp175Asn
ENST00000415427.7:c.1006G>A ENSP00000412309.2:p.Asp336Asn
ENST00000436407.7:c.1006G>A ENSP00000390637.2:p.Asp336Asn
ENST00000502059.6:c.514G>A ENSP00000442180.1:p.Asp172Asn
ENST00000535474.5:c.442G>A ENSP00000441998.1:p.Asp148Asn
ENST00000586142.5:c.838G>A ENSP00000470476.1:p.Asp280Asn
ENST00000586854.1:n.271G>A
ENST00000588179.5:c.*168G>A ENSP00000467898.2:p.=
ENST00000589322.6:c.442G>A ENSP00000466273.2:p.Asp148Asn
ENST00000589700.5:n.690G>A ENSP00000465044.1:p.Arg230=
ENST00000590377.1:n.386+2906G>A
ENST00000591541.2:n.53G>A
ENST00000619403.4:c.690G>A ENSP00000479595.1:p.Arg230=