Canonical Allele Identifier: CA2641615863

Gene: SLC14A1

Linked Data

• gnomAD v4: 18-45739436-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739436G>C , CM000680.2:g.45739436G>C	GRCh38
NC_000018.9:g.43319401G>C , CM000680.1:g.43319401G>C	GRCh37
NC_000018.8:g.41573399G>C	NCBI36
NG_011775.3:g.20310G>C
NG_011775.4:g.57412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.812-92G>C MANE Select	ENSP00000318546.4:n.812-92G>C
ENST00000502059.7:c.*165-92G>C	ENSP00000442180.2:n.*165-92G>C
ENST00000586951.6:c.812-92G>C	ENSP00000465702.2:n.812-92G>C
ENST00000588179.6:c.*142-92G>C	ENSP00000467898.2:n.*142-92G>C
ENST00000589322.7:c.416-92G>C	ENSP00000466273.3:n.416-92G>C
ENST00000321925.8:c.812-92G>C	ENSP00000318546.4:n.812-92G>C
ENST00000402943.6:c.497-92G>C	ENSP00000385320.2:n.497-92G>C
ENST00000415427.7:c.980-92G>C	ENSP00000412309.2:n.980-92G>C
ENST00000436407.7:c.980-92G>C	ENSP00000390637.2:n.980-92G>C
ENST00000502059.6:c.488-92G>C	ENSP00000442180.1:n.488-92G>C
ENST00000535474.5:c.416-92G>C	ENSP00000441998.1:n.416-92G>C
ENST00000586142.5:c.812-92G>C	ENSP00000470476.1:n.812-92G>C
ENST00000586854.1:n.245-92G>C
ENST00000588179.5:c.*142-92G>C	ENSP00000467898.2:n.*142-92G>C
ENST00000589322.6:c.416-92G>C	ENSP00000466273.2:n.416-92G>C
ENST00000589700.5:c.664-92G>C	ENSP00000465044.1:n.664-92G>C
ENST00000590377.1:c.386+2788G>C
ENST00000619403.4:c.664-92G>C	ENSP00000479595.1:n.664-92G>C
NM_001128588.3:c.980-92G>C	NP_001122060.3:n.980-92G>C
NM_001146036.2:c.812-92G>C	NP_001139508.2:n.812-92G>C
NM_001146037.1:c.980-92G>C	NP_001139509.1:n.980-92G>C
NM_001308278.1:c.497-92G>C	NP_001295207.1:n.497-92G>C
NM_001308279.1:c.416-92G>C	NP_001295208.1:n.416-92G>C
NM_015865.6:c.812-92G>C	NP_056949.4:n.812-92G>C
XM_005258329.1:c.980-92G>C	XP_005258386.1:n.980-92G>C
XM_005258333.1:c.416-92G>C	XP_005258390.1:n.416-92G>C
XM_006722526.2:c.917-92G>C	XP_006722589.1:n.917-92G>C
XM_011526141.1:c.917-92G>C	XP_011524443.1:n.917-92G>C
XM_011526142.1:c.917-92G>C	XP_011524444.1:n.917-92G>C
XM_011526143.1:c.980-92G>C	XP_011524445.1:n.980-92G>C
XM_011526144.1:c.980-92G>C	XP_011524446.1:n.980-92G>C
XR_935425.1:n.680-1842C>G
NM_015865.7:c.812-92G>C MANE Select	NP_056949.4:n.812-92G>C
XM_006722526.3:c.917-92G>C	XP_006722589.1:n.917-92G>C
XM_024451238.1:c.812-92G>C	XP_024307006.1:n.812-92G>C
XR_001753266.1:n.1178-92G>C
XR_001753561.1:n.529-1842C>G
XR_935423.2:n.698-1842C>G
NM_001128588.4:c.980-92G>C	NP_001122060.3:n.980-92G>C
NM_001146036.3:c.812-92G>C	NP_001139508.2:n.812-92G>C
NM_001308278.2:c.497-92G>C	NP_001295207.1:n.497-92G>C
NM_001308279.2:c.416-92G>C	NP_001295208.1:n.416-92G>C