Canonical Allele Identifier: CA8947486

Gene: SLC14A1

Linked Data

• dbSNP Id: rs767753239
• ExAC: 18:43319445 G / A
• gnomAD v2: 18-43319445-G-A
• gnomAD v3: 18-45739480-G-A
• gnomAD v4: 18-45739480-G-A
• MyVariant Identifiers: chr18:g.43319445G>A (hg19) ; chr18:g.45739480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739480G>A , CM000680.2:g.45739480G>A	GRCh38
NC_000018.9:g.43319445G>A , CM000680.1:g.43319445G>A	GRCh37
NC_000018.8:g.41573443G>A	NCBI36
NG_011775.3:g.20354G>A
NG_011775.4:g.57456G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321925.9:c.812-48G>A MANE Select	ENSP00000318546.4:n.812-48G>A
ENST00000502059.7:c.*165-48G>A	ENSP00000442180.2:n.*165-48G>A
ENST00000586951.6:c.812-48G>A	ENSP00000465702.2:n.812-48G>A
ENST00000588179.6:c.*142-48G>A	ENSP00000467898.2:n.*142-48G>A
ENST00000589322.7:c.416-48G>A	ENSP00000466273.3:n.416-48G>A
ENST00000321925.8:c.812-48G>A	ENSP00000318546.4:n.812-48G>A
ENST00000402943.6:c.497-48G>A	ENSP00000385320.2:n.497-48G>A
ENST00000415427.7:c.980-48G>A	ENSP00000412309.2:n.980-48G>A
ENST00000436407.7:c.980-48G>A	ENSP00000390637.2:n.980-48G>A
ENST00000502059.6:c.488-48G>A	ENSP00000442180.1:n.488-48G>A
ENST00000535474.5:c.416-48G>A	ENSP00000441998.1:n.416-48G>A
ENST00000586142.5:c.812-48G>A	ENSP00000470476.1:n.812-48G>A
ENST00000586854.1:n.245-48G>A
ENST00000588179.5:c.*142-48G>A	ENSP00000467898.2:n.*142-48G>A
ENST00000589322.6:c.416-48G>A	ENSP00000466273.2:n.416-48G>A
ENST00000589700.5:c.664-48G>A	ENSP00000465044.1:n.664-48G>A
ENST00000590377.1:c.386+2832G>A
ENST00000619403.4:c.664-48G>A	ENSP00000479595.1:n.664-48G>A
NM_001128588.3:c.980-48G>A	NP_001122060.3:n.980-48G>A
NM_001146036.2:c.812-48G>A	NP_001139508.2:n.812-48G>A
NM_001146037.1:c.980-48G>A	NP_001139509.1:n.980-48G>A
NM_001308278.1:c.497-48G>A	NP_001295207.1:n.497-48G>A
NM_001308279.1:c.416-48G>A	NP_001295208.1:n.416-48G>A
NM_015865.6:c.812-48G>A	NP_056949.4:n.812-48G>A
XM_005258329.1:c.980-48G>A	XP_005258386.1:n.980-48G>A
XM_005258333.1:c.416-48G>A	XP_005258390.1:n.416-48G>A
XM_006722526.2:c.917-48G>A	XP_006722589.1:n.917-48G>A
XM_011526141.1:c.917-48G>A	XP_011524443.1:n.917-48G>A
XM_011526142.1:c.917-48G>A	XP_011524444.1:n.917-48G>A
XM_011526143.1:c.980-48G>A	XP_011524445.1:n.980-48G>A
XM_011526144.1:c.980-48G>A	XP_011524446.1:n.980-48G>A
XR_935425.1:n.680-1886C>T
NM_015865.7:c.812-48G>A MANE Select	NP_056949.4:n.812-48G>A
XM_006722526.3:c.917-48G>A	XP_006722589.1:n.917-48G>A
XM_024451238.1:c.812-48G>A	XP_024307006.1:n.812-48G>A
XR_001753266.1:n.1178-48G>A
XR_001753561.1:n.529-1886C>T
XR_935423.2:n.698-1886C>T
NM_001128588.4:c.980-48G>A	NP_001122060.3:n.980-48G>A
NM_001146036.3:c.812-48G>A	NP_001139508.2:n.812-48G>A
NM_001308278.2:c.497-48G>A	NP_001295207.1:n.497-48G>A
NM_001308279.2:c.416-48G>A	NP_001295208.1:n.416-48G>A