Canonical Allele Identifier: CA2300515663

Gene: SLC14A1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739563T= , CM000680.2:g.45739563T=	GRCh38
NC_000018.9:g.43319528T= , CM000680.1:g.43319528T=	GRCh37
NC_000018.8:g.41573526T=	NCBI36
NG_011775.3:g.20437T=
NG_011775.4:g.57539T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.847T= MANE Select	ENSP00000318546.4:p.Phe283=
ENST00000502059.7:c.*200T=	ENSP00000442180.2:n.*200T=
ENST00000586951.6:c.847T=	ENSP00000465702.2:p.Phe283=
ENST00000588179.6:c.*177T=	ENSP00000467898.2:n.*177T=
ENST00000589322.7:c.451T=	ENSP00000466273.3:p.Phe151=
ENST00000321925.8:c.847T=	ENSP00000318546.4:p.Phe283=
ENST00000402943.6:c.532T=	ENSP00000385320.2:p.Phe178=
ENST00000415427.7:c.1015T=	ENSP00000412309.2:p.Phe339=
ENST00000436407.7:c.1015T=	ENSP00000390637.2:p.Phe339=
ENST00000502059.6:c.523T=	ENSP00000442180.1:p.Phe175=
ENST00000535474.5:c.451T=	ENSP00000441998.1:p.Phe151=
ENST00000586142.5:c.847T=	ENSP00000470476.1:p.Phe283=
ENST00000586854.1:n.280T=
ENST00000588179.5:c.*177T=	ENSP00000467898.2:n.*177T=
ENST00000589322.6:c.451T=	ENSP00000466273.2:p.Phe151=
ENST00000589700.5:c.699T=	ENSP00000465044.1:p.Thr233=
ENST00000590377.1:c.386+2915T=
ENST00000591541.2:n.62T=
ENST00000619403.4:c.699T=	ENSP00000479595.1:p.Thr233=
NM_001128588.3:c.1015T=	NP_001122060.3:p.Phe339=
NM_001146036.2:c.847T=	NP_001139508.2:p.Phe283=
NM_001146037.1:c.1015T=	NP_001139509.1:p.Phe339=
NM_001308278.1:c.532T=	NP_001295207.1:p.Phe178=
NM_001308279.1:c.451T=	NP_001295208.1:p.Phe151=
NM_015865.6:c.847T=	NP_056949.4:p.Phe283=
XM_005258329.1:c.1015T=	XP_005258386.1:p.Phe339=
XM_005258333.1:c.451T=	XP_005258390.1:p.Phe151=
XM_006722526.2:c.952T=	XP_006722589.1:p.Phe318=
XM_011526141.1:c.952T=	XP_011524443.1:p.Phe318=
XM_011526142.1:c.952T=	XP_011524444.1:p.Phe318=
XM_011526143.1:c.1015T=	XP_011524445.1:p.Phe339=
XM_011526144.1:c.1015T=	XP_011524446.1:p.Phe339=
XR_935425.1:n.680-1969A=
NM_015865.7:c.847T= MANE Select	NP_056949.4:p.Phe283=
XM_006722526.3:c.952T=	XP_006722589.1:p.Phe318=
XM_024451238.1:c.847T=	XP_024307006.1:p.Phe283=
XR_001753266.1:n.1213T=
XR_001753561.1:n.529-1969A=
XR_935423.2:n.698-1969A=
NM_001128588.4:c.1015T=	NP_001122060.3:p.Phe339=
NM_001146036.3:c.847T=	NP_001139508.2:p.Phe283=
NM_001308278.2:c.532T=	NP_001295207.1:p.Phe178=
NM_001308279.2:c.451T=	NP_001295208.1:p.Phe151=