Canonical Allele Identifier: CA402329028

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319588G>A (hg19) ; chr18:g.45739623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739623G>A , CM000680.2:g.45739623G>A	GRCh38
NC_000018.9:g.43319588G>A , CM000680.1:g.43319588G>A	GRCh37
NC_000018.8:g.41573586G>A	NCBI36
NG_011775.3:g.20497G>A
NG_011775.4:g.57599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.907G>A MANE Select	ENSP00000318546.4:p.Ala303Thr
ENST00000502059.7:c.*260G>A	ENSP00000442180.2:n.*260G>A
ENST00000586951.6:c.907G>A	ENSP00000465702.2:p.Ala303Thr
ENST00000588179.6:c.*237G>A	ENSP00000467898.2:n.*237G>A
ENST00000589322.7:c.511G>A	ENSP00000466273.3:p.Ala171Thr
ENST00000321925.8:c.907G>A	ENSP00000318546.4:p.Ala303Thr
ENST00000402943.6:c.592G>A	ENSP00000385320.2:p.Ala198Thr
ENST00000415427.7:c.1075G>A	ENSP00000412309.2:p.Ala359Thr
ENST00000436407.7:c.1075G>A	ENSP00000390637.2:p.Ala359Thr
ENST00000502059.6:c.583G>A	ENSP00000442180.1:p.Ala195Thr
ENST00000535474.5:c.511G>A	ENSP00000441998.1:p.Ala171Thr
ENST00000586142.5:c.907G>A	ENSP00000470476.1:p.Ala303Thr
ENST00000586854.1:n.340G>A
ENST00000588179.5:c.*237G>A	ENSP00000467898.2:n.*237G>A
ENST00000589700.5:c.759G>A	ENSP00000465044.1:p.Trp253Ter
ENST00000590377.1:c.386+2975G>A
ENST00000591541.2:n.122G>A
ENST00000619403.4:c.759G>A	ENSP00000479595.1:p.Trp253Ter
NM_001128588.3:c.1075G>A	NP_001122060.3:p.Ala359Thr
NM_001146036.2:c.907G>A	NP_001139508.2:p.Ala303Thr
NM_001146037.1:c.1075G>A	NP_001139509.1:p.Ala359Thr
NM_001308278.1:c.592G>A	NP_001295207.1:p.Ala198Thr
NM_001308279.1:c.511G>A	NP_001295208.1:p.Ala171Thr
NM_015865.6:c.907G>A	NP_056949.4:p.Ala303Thr
XM_005258329.1:c.1075G>A	XP_005258386.1:p.Ala359Thr
XM_005258333.1:c.511G>A	XP_005258390.1:p.Ala171Thr
XM_006722526.2:c.1012G>A	XP_006722589.1:p.Ala338Thr
XM_011526141.1:c.1012G>A	XP_011524443.1:p.Ala338Thr
XM_011526142.1:c.1012G>A	XP_011524444.1:p.Ala338Thr
XM_011526143.1:c.1075G>A	XP_011524445.1:p.Ala359Thr
XM_011526144.1:c.1075G>A	XP_011524446.1:p.Ala359Thr
XR_935425.1:n.680-2029C>T
NM_015865.7:c.907G>A MANE Select	NP_056949.4:p.Ala303Thr
XM_006722526.3:c.1012G>A	XP_006722589.1:p.Ala338Thr
XM_024451238.1:c.907G>A	XP_024307006.1:p.Ala303Thr
XR_001753266.1:n.1273G>A
XR_001753561.1:n.529-2029C>T
XR_935423.2:n.698-2029C>T
NM_001128588.4:c.1075G>A	NP_001122060.3:p.Ala359Thr
NM_001146036.3:c.907G>A	NP_001139508.2:p.Ala303Thr
NM_001308278.2:c.592G>A	NP_001295207.1:p.Ala198Thr
NM_001308279.2:c.511G>A	NP_001295208.1:p.Ala171Thr