Canonical Allele Identifier: CA402328946

Gene: SLC14A1

Linked Data

• dbSNP Id: rs1220587826
• gnomAD v2: 18-43319559-C-A
• gnomAD v3: 18-45739594-C-A
• gnomAD v4: 18-45739594-C-A
• MyVariant Identifiers: chr18:g.43319559C>A (hg19) ; chr18:g.45739594C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739594C>A , CM000680.2:g.45739594C>A	GRCh38
NC_000018.9:g.43319559C>A , CM000680.1:g.43319559C>A	GRCh37
NC_000018.8:g.41573557C>A	NCBI36
NG_011775.3:g.20468C>A
NG_011775.4:g.57570C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.878C>A MANE Select	ENSP00000318546.4:p.Ala293Asp
ENST00000502059.7:c.*231C>A	ENSP00000442180.2:n.*231C>A
ENST00000586951.6:c.878C>A	ENSP00000465702.2:p.Ala293Asp
ENST00000588179.6:c.*208C>A	ENSP00000467898.2:n.*208C>A
ENST00000589322.7:c.482C>A	ENSP00000466273.3:p.Ala161Asp
ENST00000321925.8:c.878C>A	ENSP00000318546.4:p.Ala293Asp
ENST00000402943.6:c.563C>A	ENSP00000385320.2:p.Ala188Asp
ENST00000415427.7:c.1046C>A	ENSP00000412309.2:p.Ala349Asp
ENST00000436407.7:c.1046C>A	ENSP00000390637.2:p.Ala349Asp
ENST00000502059.6:c.554C>A	ENSP00000442180.1:p.Ala185Asp
ENST00000535474.5:c.482C>A	ENSP00000441998.1:p.Ala161Asp
ENST00000586142.5:c.878C>A	ENSP00000470476.1:p.Ala293Asp
ENST00000586854.1:n.311C>A
ENST00000588179.5:c.*208C>A	ENSP00000467898.2:n.*208C>A
ENST00000589322.6:c.482C>A	ENSP00000466273.2:p.Ala161Asp
ENST00000589700.5:c.730C>A	ENSP00000465044.1:p.Pro244Thr
ENST00000590377.1:c.386+2946C>A
ENST00000591541.2:n.93C>A
ENST00000619403.4:c.730C>A	ENSP00000479595.1:p.Pro244Thr
NM_001128588.3:c.1046C>A	NP_001122060.3:p.Ala349Asp
NM_001146036.2:c.878C>A	NP_001139508.2:p.Ala293Asp
NM_001146037.1:c.1046C>A	NP_001139509.1:p.Ala349Asp
NM_001308278.1:c.563C>A	NP_001295207.1:p.Ala188Asp
NM_001308279.1:c.482C>A	NP_001295208.1:p.Ala161Asp
NM_015865.6:c.878C>A	NP_056949.4:p.Ala293Asp
XM_005258329.1:c.1046C>A	XP_005258386.1:p.Ala349Asp
XM_005258333.1:c.482C>A	XP_005258390.1:p.Ala161Asp
XM_006722526.2:c.983C>A	XP_006722589.1:p.Ala328Asp
XM_011526141.1:c.983C>A	XP_011524443.1:p.Ala328Asp
XM_011526142.1:c.983C>A	XP_011524444.1:p.Ala328Asp
XM_011526143.1:c.1046C>A	XP_011524445.1:p.Ala349Asp
XM_011526144.1:c.1046C>A	XP_011524446.1:p.Ala349Asp
XR_935425.1:n.680-2000G>T
NM_015865.7:c.878C>A MANE Select	NP_056949.4:p.Ala293Asp
XM_006722526.3:c.983C>A	XP_006722589.1:p.Ala328Asp
XM_024451238.1:c.878C>A	XP_024307006.1:p.Ala293Asp
XR_001753266.1:n.1244C>A
XR_001753561.1:n.529-2000G>T
XR_935423.2:n.698-2000G>T
NM_001128588.4:c.1046C>A	NP_001122060.3:p.Ala349Asp
NM_001146036.3:c.878C>A	NP_001139508.2:p.Ala293Asp
NM_001308278.2:c.563C>A	NP_001295207.1:p.Ala188Asp
NM_001308279.2:c.482C>A	NP_001295208.1:p.Ala161Asp