Canonical Allele Identifier: CA402329067

Gene: SLC14A1

Linked Data

• dbSNP Id: rs2047299983
• MyVariant Identifiers: chr18:g.43319602A>C (hg19) ; chr18:g.45739637A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739637A>C , CM000680.2:g.45739637A>C	GRCh38
NC_000018.9:g.43319602A>C , CM000680.1:g.43319602A>C	GRCh37
NC_000018.8:g.41573600A>C	NCBI36
NG_011775.3:g.20511A>C
NG_011775.4:g.57613A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.921A>C MANE Select	ENSP00000318546.4:p.Gln307His
ENST00000502059.7:c.*274A>C	ENSP00000442180.2:n.*274A>C
ENST00000586951.6:c.921A>C	ENSP00000465702.2:p.Gln307His
ENST00000588179.6:c.*251A>C	ENSP00000467898.2:n.*251A>C
ENST00000589322.7:c.525A>C	ENSP00000466273.3:p.Gln175His
ENST00000321925.8:c.921A>C	ENSP00000318546.4:p.Gln307His
ENST00000402943.6:c.606A>C	ENSP00000385320.2:p.Gln202His
ENST00000415427.7:c.1089A>C	ENSP00000412309.2:p.Gln363His
ENST00000436407.7:c.1089A>C	ENSP00000390637.2:p.Gln363His
ENST00000502059.6:c.597A>C	ENSP00000442180.1:p.Gln199His
ENST00000535474.5:c.525A>C	ENSP00000441998.1:p.Gln175His
ENST00000586142.5:c.921A>C	ENSP00000470476.1:p.Gln307His
ENST00000586854.1:n.354A>C
ENST00000588179.5:c.*251A>C	ENSP00000467898.2:n.*251A>C
ENST00000589700.5:c.773A>C	ENSP00000465044.1:p.Lys258Thr
ENST00000590377.1:c.386+2989A>C
ENST00000591541.2:n.136A>C
ENST00000619403.4:c.773A>C	ENSP00000479595.1:p.Lys258Thr
NM_001128588.3:c.1089A>C	NP_001122060.3:p.Gln363His
NM_001146036.2:c.921A>C	NP_001139508.2:p.Gln307His
NM_001146037.1:c.1089A>C	NP_001139509.1:p.Gln363His
NM_001308278.1:c.606A>C	NP_001295207.1:p.Gln202His
NM_001308279.1:c.525A>C	NP_001295208.1:p.Gln175His
NM_015865.6:c.921A>C	NP_056949.4:p.Gln307His
XM_005258329.1:c.1089A>C	XP_005258386.1:p.Gln363His
XM_005258333.1:c.525A>C	XP_005258390.1:p.Gln175His
XM_006722526.2:c.1026A>C	XP_006722589.1:p.Gln342His
XM_011526141.1:c.1026A>C	XP_011524443.1:p.Gln342His
XM_011526142.1:c.1026A>C	XP_011524444.1:p.Gln342His
XM_011526143.1:c.1089A>C	XP_011524445.1:p.Gln363His
XM_011526144.1:c.1089A>C	XP_011524446.1:p.Gln363His
XR_935425.1:n.680-2043T>G
NM_015865.7:c.921A>C MANE Select	NP_056949.4:p.Gln307His
XM_006722526.3:c.1026A>C	XP_006722589.1:p.Gln342His
XM_024451238.1:c.921A>C	XP_024307006.1:p.Gln307His
XR_001753266.1:n.1287A>C
XR_001753561.1:n.529-2043T>G
XR_935423.2:n.698-2043T>G
NM_001128588.4:c.1089A>C	NP_001122060.3:p.Gln363His
NM_001146036.3:c.921A>C	NP_001139508.2:p.Gln307His
NM_001308278.2:c.606A>C	NP_001295207.1:p.Gln202His
NM_001308279.2:c.525A>C	NP_001295208.1:p.Gln175His