Canonical Allele Identifier: CA629475450

Gene: SLC14A1

Linked Data

• dbSNP Id: rs1229063944
• gnomAD v2: 18-43319369-T-C
• gnomAD v3: 18-45739404-T-C
• gnomAD v4: 18-45739404-T-C
• MyVariant Identifiers: chr18:g.43319369T>C (hg19) ; chr18:g.45739404T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739404T>C , CM000680.2:g.45739404T>C	GRCh38
NC_000018.9:g.43319369T>C , CM000680.1:g.43319369T>C	GRCh37
NC_000018.8:g.41573367T>C	NCBI36
NG_011775.3:g.20278T>C
NG_011775.4:g.57380T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321925.9:c.811+94T>C MANE Select	ENSP00000318546.4:n.811+94T>C
ENST00000502059.7:c.*164+94T>C	ENSP00000442180.2:n.*164+94T>C
ENST00000586951.6:c.811+94T>C	ENSP00000465702.2:n.811+94T>C
ENST00000588179.6:c.*141+94T>C	ENSP00000467898.2:n.*141+94T>C
ENST00000589322.7:c.415+94T>C	ENSP00000466273.3:n.415+94T>C
ENST00000321925.8:c.811+94T>C	ENSP00000318546.4:n.811+94T>C
ENST00000402943.6:c.496+94T>C	ENSP00000385320.2:n.496+94T>C
ENST00000415427.7:c.979+94T>C	ENSP00000412309.2:n.979+94T>C
ENST00000436407.7:c.979+94T>C	ENSP00000390637.2:n.979+94T>C
ENST00000502059.6:c.487+94T>C	ENSP00000442180.1:n.487+94T>C
ENST00000535474.5:c.415+94T>C	ENSP00000441998.1:n.415+94T>C
ENST00000586142.5:c.811+94T>C	ENSP00000470476.1:n.811+94T>C
ENST00000586854.1:n.244+94T>C
ENST00000588179.5:c.*141+94T>C	ENSP00000467898.2:n.*141+94T>C
ENST00000589322.6:c.415+94T>C	ENSP00000466273.2:n.415+94T>C
ENST00000589700.5:c.664-124T>C	ENSP00000465044.1:n.664-124T>C
ENST00000590377.1:c.386+2756T>C
ENST00000619403.4:c.664-124T>C	ENSP00000479595.1:n.664-124T>C
NM_001128588.3:c.979+94T>C	NP_001122060.3:n.979+94T>C
NM_001146036.2:c.811+94T>C	NP_001139508.2:n.811+94T>C
NM_001146037.1:c.979+94T>C	NP_001139509.1:n.979+94T>C
NM_001308278.1:c.496+94T>C	NP_001295207.1:n.496+94T>C
NM_001308279.1:c.415+94T>C	NP_001295208.1:n.415+94T>C
NM_015865.6:c.811+94T>C	NP_056949.4:n.811+94T>C
XM_005258329.1:c.979+94T>C	XP_005258386.1:n.979+94T>C
XM_005258333.1:c.415+94T>C	XP_005258390.1:n.415+94T>C
XM_006722526.2:c.916+94T>C	XP_006722589.1:n.916+94T>C
XM_011526141.1:c.916+94T>C	XP_011524443.1:n.916+94T>C
XM_011526142.1:c.916+94T>C	XP_011524444.1:n.916+94T>C
XM_011526143.1:c.979+94T>C	XP_011524445.1:n.979+94T>C
XM_011526144.1:c.979+94T>C	XP_011524446.1:n.979+94T>C
XR_935425.1:n.680-1810A>G
NM_015865.7:c.811+94T>C MANE Select	NP_056949.4:n.811+94T>C
XM_006722526.3:c.916+94T>C	XP_006722589.1:n.916+94T>C
XM_024451238.1:c.811+94T>C	XP_024307006.1:n.811+94T>C
XR_001753266.1:n.1177+94T>C
XR_001753561.1:n.529-1810A>G
XR_935423.2:n.698-1810A>G
NM_001128588.4:c.979+94T>C	NP_001122060.3:n.979+94T>C
NM_001146036.3:c.811+94T>C	NP_001139508.2:n.811+94T>C
NM_001308278.2:c.496+94T>C	NP_001295207.1:n.496+94T>C
NM_001308279.2:c.415+94T>C	NP_001295208.1:n.415+94T>C