Canonical Allele Identifier: CA360805084

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385400G>C , CM000667.2:g.132385400G>C	GRCh38
NC_000005.9:g.131721092G>C , CM000667.1:g.131721092G>C	GRCh37
NC_000005.8:g.131748991G>C	NCBI36
NG_008982.1:g.20692G>C
NG_008982.2:g.20697G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1086G>C	ENSP00000388838.2:n.665+1086G>C
ENST00000435065.7:c.797G>C	ENSP00000402760.2:p.Gly266Ala
ENST00000448810.6:c.725G>C	ENSP00000401860.2:p.Gly242Ala
ENST00000686757.1:c.744G>C	ENSP00000510721.1:p.Trp248Cys
ENST00000687740.1:n.1885G>C
ENST00000688151.1:n.1917G>C
ENST00000689271.1:c.671+1080G>C	ENSP00000510797.1:n.671+1080G>C
ENST00000690900.1:c.696G>C	ENSP00000510703.1:p.Trp232Cys
ENST00000692212.1:n.551G>C
ENST00000692355.1:c.204+1099G>C
ENST00000692413.1:c.744G>C	ENSP00000509374.1:p.Trp248Cys
ENST00000692825.1:c.793G>C	ENSP00000509447.1:n.793G>C
ENST00000693308.1:c.738G>C	ENSP00000509770.1:p.Trp246Cys
ENST00000693763.1:n.1885G>C
ENST00000245407.8:c.725G>C MANE Select	ENSP00000245407.3:p.Gly242Ala
ENST00000245407.7:c.725G>C	ENSP00000245407.3:p.Gly242Ala
ENST00000415928.5:c.494G>C	ENSP00000388838.1:p.Gly165Ala
ENST00000435065.6:c.797G>C	ENSP00000402760.2:p.Gly266Ala
ENST00000437841.6:c.*40G>C	ENSP00000400553.1:n.*40G>C
ENST00000448810.5:c.73G>C
ENST00000461013.5:n.8147G>C
NM_001308122.1:c.797G>C	NP_001295051.1:p.Gly266Ala
NM_003060.3:c.725G>C	NP_003051.1:p.Gly242Ala
XM_011543590.1:c.107G>C	XP_011541892.1:p.Gly36Ala
XR_427718.1:n.1085G>C
XR_948290.1:n.1066G>C
XR_948291.1:n.1079G>C
XM_011543590.2:c.107G>C	XP_011541892.1:p.Gly36Ala
XM_017009778.2:c.197G>C	XP_016865267.1:p.Gly66Ala
XR_001742215.1:n.1066G>C
XR_001742216.1:n.1085G>C
XR_427718.2:n.1085G>C
XR_948290.2:n.1066G>C
XR_948291.2:n.1079G>C
NM_003060.4:c.725G>C MANE Select	NP_003051.1:p.Gly242Ala
NM_001308122.2:c.797G>C	NP_001295051.1:p.Gly266Ala