Canonical Allele Identifier: CA402328833

Gene: SLC14A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739554G>C , CM000680.2:g.45739554G>C	GRCh38
NC_000018.9:g.43319519G>C , CM000680.1:g.43319519G>C	GRCh37
NC_000018.8:g.41573517G>C	NCBI36
NG_011775.3:g.20428G>C
NG_011775.4:g.57530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.838G>C MANE Select	ENSP00000318546.4:p.Asp280His
ENST00000502059.7:c.*191G>C	ENSP00000442180.2:n.*191G>C
ENST00000586951.6:c.838G>C	ENSP00000465702.2:p.Asp280His
ENST00000588179.6:c.*168G>C	ENSP00000467898.2:n.*168G>C
ENST00000589322.7:c.442G>C	ENSP00000466273.3:p.Asp148His
ENST00000321925.8:c.838G>C	ENSP00000318546.4:p.Asp280His
ENST00000402943.6:c.523G>C	ENSP00000385320.2:p.Asp175His
ENST00000415427.7:c.1006G>C	ENSP00000412309.2:p.Asp336His
ENST00000436407.7:c.1006G>C	ENSP00000390637.2:p.Asp336His
ENST00000502059.6:c.514G>C	ENSP00000442180.1:p.Asp172His
ENST00000535474.5:c.442G>C	ENSP00000441998.1:p.Asp148His
ENST00000586142.5:c.838G>C	ENSP00000470476.1:p.Asp280His
ENST00000586854.1:n.271G>C
ENST00000588179.5:c.*168G>C	ENSP00000467898.2:n.*168G>C
ENST00000589322.6:c.442G>C	ENSP00000466273.2:p.Asp148His
ENST00000589700.5:c.690G>C	ENSP00000465044.1:p.Arg230Ser
ENST00000590377.1:c.386+2906G>C
ENST00000591541.2:n.53G>C
ENST00000619403.4:c.690G>C	ENSP00000479595.1:p.Arg230Ser
NM_001128588.3:c.1006G>C	NP_001122060.3:p.Asp336His
NM_001146036.2:c.838G>C	NP_001139508.2:p.Asp280His
NM_001146037.1:c.1006G>C	NP_001139509.1:p.Asp336His
NM_001308278.1:c.523G>C	NP_001295207.1:p.Asp175His
NM_001308279.1:c.442G>C	NP_001295208.1:p.Asp148His
NM_015865.6:c.838G>C	NP_056949.4:p.Asp280His
XM_005258329.1:c.1006G>C	XP_005258386.1:p.Asp336His
XM_005258333.1:c.442G>C	XP_005258390.1:p.Asp148His
XM_006722526.2:c.943G>C	XP_006722589.1:p.Asp315His
XM_011526141.1:c.943G>C	XP_011524443.1:p.Asp315His
XM_011526142.1:c.943G>C	XP_011524444.1:p.Asp315His
XM_011526143.1:c.1006G>C	XP_011524445.1:p.Asp336His
XM_011526144.1:c.1006G>C	XP_011524446.1:p.Asp336His
XR_935425.1:n.680-1960C>G
NM_015865.7:c.838G>C MANE Select	NP_056949.4:p.Asp280His
XM_006722526.3:c.943G>C	XP_006722589.1:p.Asp315His
XM_024451238.1:c.838G>C	XP_024307006.1:p.Asp280His
XR_001753266.1:n.1204G>C
XR_001753561.1:n.529-1960C>G
XR_935423.2:n.698-1960C>G
NM_001128588.4:c.1006G>C	NP_001122060.3:p.Asp336His
NM_001146036.3:c.838G>C	NP_001139508.2:p.Asp280His
NM_001308278.2:c.523G>C	NP_001295207.1:p.Asp175His
NM_001308279.2:c.442G>C	NP_001295208.1:p.Asp148His