Canonical Allele Identifier: CA629475456

Gene: SLC14A1

Linked Data

• dbSNP Id: rs1339895565
• gnomAD v2: 18-43319442-C-T
• gnomAD v4: 18-45739477-C-T
• MyVariant Identifiers: chr18:g.43319442C>T (hg19) ; chr18:g.45739477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739477C>T , CM000680.2:g.45739477C>T	GRCh38
NC_000018.9:g.43319442C>T , CM000680.1:g.43319442C>T	GRCh37
NC_000018.8:g.41573440C>T	NCBI36
NG_011775.3:g.20351C>T
NG_011775.4:g.57453C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321925.9:c.812-51C>T MANE Select	ENSP00000318546.4:n.812-51C>T
ENST00000502059.7:c.*165-51C>T	ENSP00000442180.2:n.*165-51C>T
ENST00000586951.6:c.812-51C>T	ENSP00000465702.2:n.812-51C>T
ENST00000588179.6:c.*142-51C>T	ENSP00000467898.2:n.*142-51C>T
ENST00000589322.7:c.416-51C>T	ENSP00000466273.3:n.416-51C>T
ENST00000321925.8:c.812-51C>T	ENSP00000318546.4:n.812-51C>T
ENST00000402943.6:c.497-51C>T	ENSP00000385320.2:n.497-51C>T
ENST00000415427.7:c.980-51C>T	ENSP00000412309.2:n.980-51C>T
ENST00000436407.7:c.980-51C>T	ENSP00000390637.2:n.980-51C>T
ENST00000502059.6:c.488-51C>T	ENSP00000442180.1:n.488-51C>T
ENST00000535474.5:c.416-51C>T	ENSP00000441998.1:n.416-51C>T
ENST00000586142.5:c.812-51C>T	ENSP00000470476.1:n.812-51C>T
ENST00000586854.1:n.245-51C>T
ENST00000588179.5:c.*142-51C>T	ENSP00000467898.2:n.*142-51C>T
ENST00000589322.6:c.416-51C>T	ENSP00000466273.2:n.416-51C>T
ENST00000589700.5:c.664-51C>T	ENSP00000465044.1:n.664-51C>T
ENST00000590377.1:c.386+2829C>T
ENST00000619403.4:c.664-51C>T	ENSP00000479595.1:n.664-51C>T
NM_001128588.3:c.980-51C>T	NP_001122060.3:n.980-51C>T
NM_001146036.2:c.812-51C>T	NP_001139508.2:n.812-51C>T
NM_001146037.1:c.980-51C>T	NP_001139509.1:n.980-51C>T
NM_001308278.1:c.497-51C>T	NP_001295207.1:n.497-51C>T
NM_001308279.1:c.416-51C>T	NP_001295208.1:n.416-51C>T
NM_015865.6:c.812-51C>T	NP_056949.4:n.812-51C>T
XM_005258329.1:c.980-51C>T	XP_005258386.1:n.980-51C>T
XM_005258333.1:c.416-51C>T	XP_005258390.1:n.416-51C>T
XM_006722526.2:c.917-51C>T	XP_006722589.1:n.917-51C>T
XM_011526141.1:c.917-51C>T	XP_011524443.1:n.917-51C>T
XM_011526142.1:c.917-51C>T	XP_011524444.1:n.917-51C>T
XM_011526143.1:c.980-51C>T	XP_011524445.1:n.980-51C>T
XM_011526144.1:c.980-51C>T	XP_011524446.1:n.980-51C>T
XR_935425.1:n.680-1883G>A
NM_015865.7:c.812-51C>T MANE Select	NP_056949.4:n.812-51C>T
XM_006722526.3:c.917-51C>T	XP_006722589.1:n.917-51C>T
XM_024451238.1:c.812-51C>T	XP_024307006.1:n.812-51C>T
XR_001753266.1:n.1178-51C>T
XR_001753561.1:n.529-1883G>A
XR_935423.2:n.698-1883G>A
NM_001128588.4:c.980-51C>T	NP_001122060.3:n.980-51C>T
NM_001146036.3:c.812-51C>T	NP_001139508.2:n.812-51C>T
NM_001308278.2:c.497-51C>T	NP_001295207.1:n.497-51C>T
NM_001308279.2:c.416-51C>T	NP_001295208.1:n.416-51C>T