Canonical Allele Identifier: CA402329085

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319608C>T (hg19) ; chr18:g.45739643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739643C>T , CM000680.2:g.45739643C>T	GRCh38
NC_000018.9:g.43319608C>T , CM000680.1:g.43319608C>T	GRCh37
NC_000018.8:g.41573606C>T	NCBI36
NG_011775.3:g.20517C>T
NG_011775.4:g.57619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.927C>T MANE Select	ENSP00000318546.4:p.His309=
ENST00000502059.7:c.*280C>T	ENSP00000442180.2:n.*280C>T
ENST00000586951.6:c.927C>T	ENSP00000465702.2:p.His309=
ENST00000588179.6:c.*257C>T	ENSP00000467898.2:n.*257C>T
ENST00000589322.7:c.531C>T	ENSP00000466273.3:p.His177=
ENST00000321925.8:c.927C>T	ENSP00000318546.4:p.His309=
ENST00000402943.6:c.612C>T	ENSP00000385320.2:p.His204=
ENST00000415427.7:c.1095C>T	ENSP00000412309.2:p.His365=
ENST00000436407.7:c.1095C>T	ENSP00000390637.2:p.His365=
ENST00000502059.6:c.603C>T	ENSP00000442180.1:p.His201=
ENST00000535474.5:c.531C>T	ENSP00000441998.1:p.His177=
ENST00000586142.5:c.927C>T	ENSP00000470476.1:p.His309=
ENST00000586854.1:n.360C>T
ENST00000588179.5:c.*257C>T	ENSP00000467898.2:n.*257C>T
ENST00000589700.5:c.779C>T	ENSP00000465044.1:p.Thr260Ile
ENST00000590377.1:c.386+2995C>T
ENST00000591541.2:n.142C>T
ENST00000619403.4:c.779C>T	ENSP00000479595.1:p.Thr260Ile
NM_001128588.3:c.1095C>T	NP_001122060.3:p.His365=
NM_001146036.2:c.927C>T	NP_001139508.2:p.His309=
NM_001146037.1:c.1095C>T	NP_001139509.1:p.His365=
NM_001308278.1:c.612C>T	NP_001295207.1:p.His204=
NM_001308279.1:c.531C>T	NP_001295208.1:p.His177=
NM_015865.6:c.927C>T	NP_056949.4:p.His309=
XM_005258329.1:c.1095C>T	XP_005258386.1:p.His365=
XM_005258333.1:c.531C>T	XP_005258390.1:p.His177=
XM_006722526.2:c.1032C>T	XP_006722589.1:p.His344=
XM_011526141.1:c.1032C>T	XP_011524443.1:p.His344=
XM_011526142.1:c.1032C>T	XP_011524444.1:p.His344=
XM_011526143.1:c.1095C>T	XP_011524445.1:p.His365=
XM_011526144.1:c.1095C>T	XP_011524446.1:p.His365=
XR_935425.1:n.680-2049G>A
NM_015865.7:c.927C>T MANE Select	NP_056949.4:p.His309=
XM_006722526.3:c.1032C>T	XP_006722589.1:p.His344=
XM_024451238.1:c.927C>T	XP_024307006.1:p.His309=
XR_001753266.1:n.1293C>T
XR_001753561.1:n.529-2049G>A
XR_935423.2:n.698-2049G>A
NM_001128588.4:c.1095C>T	NP_001122060.3:p.His365=
NM_001146036.3:c.927C>T	NP_001139508.2:p.His309=
NM_001308278.2:c.612C>T	NP_001295207.1:p.His204=
NM_001308279.2:c.531C>T	NP_001295208.1:p.His177=