Canonical Allele Identifier: CA8947505

Gene: SLC14A1

Linked Data

• dbSNP Id: rs760827294
• ExAC: 18:43319565 T / A
• gnomAD v2: 18-43319565-T-A
• gnomAD v3: 18-45739600-T-A
• gnomAD v4: 18-45739600-T-A
• MyVariant Identifiers: chr18:g.43319565T>A (hg19) ; chr18:g.45739600T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739600T>A , CM000680.2:g.45739600T>A	GRCh38
NC_000018.9:g.43319565T>A , CM000680.1:g.43319565T>A	GRCh37
NC_000018.8:g.41573563T>A	NCBI36
NG_011775.3:g.20474T>A
NG_011775.4:g.57576T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.884T>A MANE Select	ENSP00000318546.4:p.Ile295Asn
ENST00000502059.7:c.*237T>A	ENSP00000442180.2:n.*237T>A
ENST00000586951.6:c.884T>A	ENSP00000465702.2:p.Ile295Asn
ENST00000588179.6:c.*214T>A	ENSP00000467898.2:n.*214T>A
ENST00000589322.7:c.488T>A	ENSP00000466273.3:p.Ile163Asn
ENST00000321925.8:c.884T>A	ENSP00000318546.4:p.Ile295Asn
ENST00000402943.6:c.569T>A	ENSP00000385320.2:p.Ile190Asn
ENST00000415427.7:c.1052T>A	ENSP00000412309.2:p.Ile351Asn
ENST00000436407.7:c.1052T>A	ENSP00000390637.2:p.Ile351Asn
ENST00000502059.6:c.560T>A	ENSP00000442180.1:p.Ile187Asn
ENST00000535474.5:c.488T>A	ENSP00000441998.1:p.Ile163Asn
ENST00000586142.5:c.884T>A	ENSP00000470476.1:p.Ile295Asn
ENST00000586854.1:n.317T>A
ENST00000588179.5:c.*214T>A	ENSP00000467898.2:n.*214T>A
ENST00000589322.6:c.488T>A	ENSP00000466273.2:p.Ile163Asn
ENST00000589700.5:c.736T>A	ENSP00000465044.1:p.Leu246Met
ENST00000590377.1:c.386+2952T>A
ENST00000591541.2:n.99T>A
ENST00000619403.4:c.736T>A	ENSP00000479595.1:p.Leu246Met
NM_001128588.3:c.1052T>A	NP_001122060.3:p.Ile351Asn
NM_001146036.2:c.884T>A	NP_001139508.2:p.Ile295Asn
NM_001146037.1:c.1052T>A	NP_001139509.1:p.Ile351Asn
NM_001308278.1:c.569T>A	NP_001295207.1:p.Ile190Asn
NM_001308279.1:c.488T>A	NP_001295208.1:p.Ile163Asn
NM_015865.6:c.884T>A	NP_056949.4:p.Ile295Asn
XM_005258329.1:c.1052T>A	XP_005258386.1:p.Ile351Asn
XM_005258333.1:c.488T>A	XP_005258390.1:p.Ile163Asn
XM_006722526.2:c.989T>A	XP_006722589.1:p.Ile330Asn
XM_011526141.1:c.989T>A	XP_011524443.1:p.Ile330Asn
XM_011526142.1:c.989T>A	XP_011524444.1:p.Ile330Asn
XM_011526143.1:c.1052T>A	XP_011524445.1:p.Ile351Asn
XM_011526144.1:c.1052T>A	XP_011524446.1:p.Ile351Asn
XR_935425.1:n.680-2006A>T
NM_015865.7:c.884T>A MANE Select	NP_056949.4:p.Ile295Asn
XM_006722526.3:c.989T>A	XP_006722589.1:p.Ile330Asn
XM_024451238.1:c.884T>A	XP_024307006.1:p.Ile295Asn
XR_001753266.1:n.1250T>A
XR_001753561.1:n.529-2006A>T
XR_935423.2:n.698-2006A>T
NM_001128588.4:c.1052T>A	NP_001122060.3:p.Ile351Asn
NM_001146036.3:c.884T>A	NP_001139508.2:p.Ile295Asn
NM_001308278.2:c.569T>A	NP_001295207.1:p.Ile190Asn
NM_001308279.2:c.488T>A	NP_001295208.1:p.Ile163Asn