Canonical Allele Identifier: CA2300515666

Gene: SLC14A1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739566G= , CM000680.2:g.45739566G=	GRCh38
NC_000018.9:g.43319531G= , CM000680.1:g.43319531G=	GRCh37
NC_000018.8:g.41573529G=	NCBI36
NG_011775.3:g.20440G=
NG_011775.4:g.57542G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.850G= MANE Select	ENSP00000318546.4:p.Gly284=
ENST00000502059.7:c.*203G=	ENSP00000442180.2:n.*203G=
ENST00000586951.6:c.850G=	ENSP00000465702.2:p.Gly284=
ENST00000588179.6:c.*180G=	ENSP00000467898.2:n.*180G=
ENST00000589322.7:c.454G=	ENSP00000466273.3:p.Gly152=
ENST00000321925.8:c.850G=	ENSP00000318546.4:p.Gly284=
ENST00000402943.6:c.535G=	ENSP00000385320.2:p.Gly179=
ENST00000415427.7:c.1018G=	ENSP00000412309.2:p.Gly340=
ENST00000436407.7:c.1018G=	ENSP00000390637.2:p.Gly340=
ENST00000502059.6:c.526G=	ENSP00000442180.1:p.Gly176=
ENST00000535474.5:c.454G=	ENSP00000441998.1:p.Gly152=
ENST00000586142.5:c.850G=	ENSP00000470476.1:p.Gly284=
ENST00000586854.1:n.283G=
ENST00000588179.5:c.*180G=	ENSP00000467898.2:n.*180G=
ENST00000589322.6:c.454G=	ENSP00000466273.2:p.Gly152=
ENST00000589700.5:c.702G=	ENSP00000465044.1:p.Leu234=
ENST00000590377.1:c.386+2918G=
ENST00000591541.2:n.65G=
ENST00000619403.4:c.702G=	ENSP00000479595.1:p.Leu234=
NM_001128588.3:c.1018G=	NP_001122060.3:p.Gly340=
NM_001146036.2:c.850G=	NP_001139508.2:p.Gly284=
NM_001146037.1:c.1018G=	NP_001139509.1:p.Gly340=
NM_001308278.1:c.535G=	NP_001295207.1:p.Gly179=
NM_001308279.1:c.454G=	NP_001295208.1:p.Gly152=
NM_015865.6:c.850G=	NP_056949.4:p.Gly284=
XM_005258329.1:c.1018G=	XP_005258386.1:p.Gly340=
XM_005258333.1:c.454G=	XP_005258390.1:p.Gly152=
XM_006722526.2:c.955G=	XP_006722589.1:p.Gly319=
XM_011526141.1:c.955G=	XP_011524443.1:p.Gly319=
XM_011526142.1:c.955G=	XP_011524444.1:p.Gly319=
XM_011526143.1:c.1018G=	XP_011524445.1:p.Gly340=
XM_011526144.1:c.1018G=	XP_011524446.1:p.Gly340=
XR_935425.1:n.680-1972C=
NM_015865.7:c.850G= MANE Select	NP_056949.4:p.Gly284=
XM_006722526.3:c.955G=	XP_006722589.1:p.Gly319=
XM_024451238.1:c.850G=	XP_024307006.1:p.Gly284=
XR_001753266.1:n.1216G=
XR_001753561.1:n.529-1972C=
XR_935423.2:n.698-1972C=
NM_001128588.4:c.1018G=	NP_001122060.3:p.Gly340=
NM_001146036.3:c.850G=	NP_001139508.2:p.Gly284=
NM_001308278.2:c.535G=	NP_001295207.1:p.Gly179=
NM_001308279.2:c.454G=	NP_001295208.1:p.Gly152=