Canonical Allele Identifier: CA989862400

Gene: SLC14A1

Linked Data

• dbSNP Id: rs2047290483
• gnomAD v3: 18-45739383-C-T
• gnomAD v4: 18-45739383-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739383C>T , CM000680.2:g.45739383C>T	GRCh38
NC_000018.9:g.43319348C>T , CM000680.1:g.43319348C>T	GRCh37
NC_000018.8:g.41573346C>T	NCBI36
NG_011775.3:g.20257C>T
NG_011775.4:g.57359C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321925.9:c.811+73C>T MANE Select	ENSP00000318546.4:n.811+73C>T
ENST00000502059.7:c.*164+73C>T	ENSP00000442180.2:n.*164+73C>T
ENST00000586951.6:c.811+73C>T	ENSP00000465702.2:n.811+73C>T
ENST00000588179.6:c.*141+73C>T	ENSP00000467898.2:n.*141+73C>T
ENST00000589322.7:c.415+73C>T	ENSP00000466273.3:n.415+73C>T
ENST00000321925.8:c.811+73C>T	ENSP00000318546.4:n.811+73C>T
ENST00000402943.6:c.496+73C>T	ENSP00000385320.2:n.496+73C>T
ENST00000415427.7:c.979+73C>T	ENSP00000412309.2:n.979+73C>T
ENST00000436407.7:c.979+73C>T	ENSP00000390637.2:n.979+73C>T
ENST00000502059.6:c.487+73C>T	ENSP00000442180.1:n.487+73C>T
ENST00000535474.5:c.415+73C>T	ENSP00000441998.1:n.415+73C>T
ENST00000586142.5:c.811+73C>T	ENSP00000470476.1:n.811+73C>T
ENST00000586854.1:n.244+73C>T
ENST00000588179.5:c.*141+73C>T	ENSP00000467898.2:n.*141+73C>T
ENST00000589322.6:c.415+73C>T	ENSP00000466273.2:n.415+73C>T
ENST00000589700.5:c.664-145C>T	ENSP00000465044.1:n.664-145C>T
ENST00000590377.1:c.386+2735C>T
ENST00000619403.4:c.664-145C>T	ENSP00000479595.1:n.664-145C>T
NM_001128588.3:c.979+73C>T	NP_001122060.3:n.979+73C>T
NM_001146036.2:c.811+73C>T	NP_001139508.2:n.811+73C>T
NM_001146037.1:c.979+73C>T	NP_001139509.1:n.979+73C>T
NM_001308278.1:c.496+73C>T	NP_001295207.1:n.496+73C>T
NM_001308279.1:c.415+73C>T	NP_001295208.1:n.415+73C>T
NM_015865.6:c.811+73C>T	NP_056949.4:n.811+73C>T
XM_005258329.1:c.979+73C>T	XP_005258386.1:n.979+73C>T
XM_005258333.1:c.415+73C>T	XP_005258390.1:n.415+73C>T
XM_006722526.2:c.916+73C>T	XP_006722589.1:n.916+73C>T
XM_011526141.1:c.916+73C>T	XP_011524443.1:n.916+73C>T
XM_011526142.1:c.916+73C>T	XP_011524444.1:n.916+73C>T
XM_011526143.1:c.979+73C>T	XP_011524445.1:n.979+73C>T
XM_011526144.1:c.979+73C>T	XP_011524446.1:n.979+73C>T
XR_935425.1:n.680-1789G>A
NM_015865.7:c.811+73C>T MANE Select	NP_056949.4:n.811+73C>T
XM_006722526.3:c.916+73C>T	XP_006722589.1:n.916+73C>T
XM_024451238.1:c.811+73C>T	XP_024307006.1:n.811+73C>T
XR_001753266.1:n.1177+73C>T
XR_001753561.1:n.529-1789G>A
XR_935423.2:n.698-1789G>A
NM_001128588.4:c.979+73C>T	NP_001122060.3:n.979+73C>T
NM_001146036.3:c.811+73C>T	NP_001139508.2:n.811+73C>T
NM_001308278.2:c.496+73C>T	NP_001295207.1:n.496+73C>T
NM_001308279.2:c.415+73C>T	NP_001295208.1:n.415+73C>T