Canonical Allele Identifier: CA360806723

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132389021G>C , CM000667.2:g.132389021G>C	GRCh38
NC_000005.9:g.131724713G>C , CM000667.1:g.131724713G>C	GRCh37
NC_000005.8:g.131752612G>C	NCBI36
NG_008982.1:g.24313G>C
NG_008982.2:g.24318G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.893G>C	ENSP00000388838.2:p.Trp298Ser
ENST00000435065.7:c.1124G>C	ENSP00000402760.2:p.Trp375Ser
ENST00000448810.6:c.1052G>C	ENSP00000401860.2:p.Cys351Ser
ENST00000685543.1:n.1193G>C
ENST00000686757.1:c.*216G>C	ENSP00000510721.1:n.*216G>C
ENST00000687740.1:n.3737G>C
ENST00000688151.1:n.2362G>C
ENST00000689271.1:c.899G>C	ENSP00000510797.1:p.Trp300Ser
ENST00000690900.1:c.*216G>C	ENSP00000510703.1:n.*216G>C
ENST00000692212.1:n.996G>C
ENST00000692355.1:c.305G>C
ENST00000692413.1:c.1034G>C	ENSP00000509374.1:p.Trp345Ser
ENST00000692825.1:c.1120G>C	ENSP00000509447.1:n.1120G>C
ENST00000693308.1:c.1100G>C	ENSP00000509770.1:p.Trp367Ser
ENST00000693763.1:n.2212G>C
ENST00000245407.8:c.1052G>C MANE Select	ENSP00000245407.3:p.Trp351Ser
ENST00000245407.7:c.1052G>C	ENSP00000245407.3:p.Trp351Ser
ENST00000435065.6:c.1124G>C	ENSP00000402760.2:p.Trp375Ser
ENST00000447841.5:c.111G>C
ENST00000448810.5:c.400G>C
ENST00000461013.5:n.8474G>C
ENST00000475308.1:n.62G>C
ENST00000479605.5:n.155G>C
NM_001308122.1:c.1124G>C	NP_001295051.1:p.Trp375Ser
NM_003060.3:c.1052G>C	NP_003051.1:p.Trp351Ser
XM_011543590.1:c.434G>C	XP_011541892.1:p.Trp145Ser
XR_427718.1:n.1412G>C
XR_948290.1:n.1393G>C
XR_948291.1:n.1406G>C
XM_011543590.2:c.434G>C	XP_011541892.1:p.Trp145Ser
XM_017009778.2:c.524G>C	XP_016865267.1:p.Trp175Ser
XR_001742215.1:n.1393G>C
XR_001742216.1:n.1412G>C
XR_427718.2:n.1412G>C
XR_948290.2:n.1393G>C
XR_948291.2:n.1406G>C
NM_003060.4:c.1052G>C MANE Select	NP_003051.1:p.Trp351Ser
NM_001308122.2:c.1124G>C	NP_001295051.1:p.Trp375Ser