Canonical Allele Identifier: CA2300515698

Gene: SLC14A1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739641C= , CM000680.2:g.45739641C=	GRCh38
NC_000018.9:g.43319606C= , CM000680.1:g.43319606C=	GRCh37
NC_000018.8:g.41573604C=	NCBI36
NG_011775.3:g.20515C=
NG_011775.4:g.57617C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.925C= MANE Select	ENSP00000318546.4:p.His309=
ENST00000502059.7:c.*278C=	ENSP00000442180.2:n.*278C=
ENST00000586951.6:c.925C=	ENSP00000465702.2:p.His309=
ENST00000588179.6:c.*255C=	ENSP00000467898.2:n.*255C=
ENST00000589322.7:c.529C=	ENSP00000466273.3:p.His177=
ENST00000321925.8:c.925C=	ENSP00000318546.4:p.His309=
ENST00000402943.6:c.610C=	ENSP00000385320.2:p.His204=
ENST00000415427.7:c.1093C=	ENSP00000412309.2:p.His365=
ENST00000436407.7:c.1093C=	ENSP00000390637.2:p.His365=
ENST00000502059.6:c.601C=	ENSP00000442180.1:p.His201=
ENST00000535474.5:c.529C=	ENSP00000441998.1:p.His177=
ENST00000586142.5:c.925C=	ENSP00000470476.1:p.His309=
ENST00000586854.1:n.358C=
ENST00000588179.5:c.*255C=	ENSP00000467898.2:n.*255C=
ENST00000589700.5:c.777C=	ENSP00000465044.1:p.Pro259=
ENST00000590377.1:c.386+2993C=
ENST00000591541.2:n.140C=
ENST00000619403.4:c.777C=	ENSP00000479595.1:p.Pro259=
NM_001128588.3:c.1093C=	NP_001122060.3:p.His365=
NM_001146036.2:c.925C=	NP_001139508.2:p.His309=
NM_001146037.1:c.1093C=	NP_001139509.1:p.His365=
NM_001308278.1:c.610C=	NP_001295207.1:p.His204=
NM_001308279.1:c.529C=	NP_001295208.1:p.His177=
NM_015865.6:c.925C=	NP_056949.4:p.His309=
XM_005258329.1:c.1093C=	XP_005258386.1:p.His365=
XM_005258333.1:c.529C=	XP_005258390.1:p.His177=
XM_006722526.2:c.1030C=	XP_006722589.1:p.His344=
XM_011526141.1:c.1030C=	XP_011524443.1:p.His344=
XM_011526142.1:c.1030C=	XP_011524444.1:p.His344=
XM_011526143.1:c.1093C=	XP_011524445.1:p.His365=
XM_011526144.1:c.1093C=	XP_011524446.1:p.His365=
XR_935425.1:n.680-2047G=
NM_015865.7:c.925C= MANE Select	NP_056949.4:p.His309=
XM_006722526.3:c.1030C=	XP_006722589.1:p.His344=
XM_024451238.1:c.925C=	XP_024307006.1:p.His309=
XR_001753266.1:n.1291C=
XR_001753561.1:n.529-2047G=
XR_935423.2:n.698-2047G=
NM_001128588.4:c.1093C=	NP_001122060.3:p.His365=
NM_001146036.3:c.925C=	NP_001139508.2:p.His309=
NM_001308278.2:c.610C=	NP_001295207.1:p.His204=
NM_001308279.2:c.529C=	NP_001295208.1:p.His177=