Canonical Allele Identifier: CA360805039

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132385382-G-T
• MyVariant Identifiers: chr5:g.131721074G>T (hg19) ; chr5:g.132385382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385382G>T , CM000667.2:g.132385382G>T	GRCh38
NC_000005.9:g.131721074G>T , CM000667.1:g.131721074G>T	GRCh37
NC_000005.8:g.131748973G>T	NCBI36
NG_008982.1:g.20674G>T
NG_008982.2:g.20679G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1068G>T	ENSP00000388838.2:n.665+1068G>T
ENST00000435065.7:c.779G>T	ENSP00000402760.2:p.Cys260Phe
ENST00000448810.6:c.707G>T	ENSP00000401860.2:p.Cys236Phe
ENST00000686757.1:c.726G>T	ENSP00000510721.1:p.Val242=
ENST00000687740.1:n.1867G>T
ENST00000688151.1:n.1899G>T
ENST00000689271.1:c.671+1062G>T	ENSP00000510797.1:n.671+1062G>T
ENST00000690900.1:c.678G>T	ENSP00000510703.1:p.Val226=
ENST00000692212.1:n.533G>T
ENST00000692355.1:c.204+1081G>T
ENST00000692413.1:c.726G>T	ENSP00000509374.1:p.Val242=
ENST00000692825.1:c.775G>T	ENSP00000509447.1:n.775G>T
ENST00000693308.1:c.720G>T	ENSP00000509770.1:p.Val240=
ENST00000693763.1:n.1867G>T
ENST00000245407.8:c.707G>T MANE Select	ENSP00000245407.3:p.Cys236Phe
ENST00000245407.7:c.707G>T	ENSP00000245407.3:p.Cys236Phe
ENST00000415928.5:c.476G>T	ENSP00000388838.1:p.Cys159Phe
ENST00000435065.6:c.779G>T	ENSP00000402760.2:p.Cys260Phe
ENST00000437841.6:c.*22G>T	ENSP00000400553.1:n.*22G>T
ENST00000448810.5:c.55G>T
ENST00000461013.5:n.8129G>T
NM_001308122.1:c.779G>T	NP_001295051.1:p.Cys260Phe
NM_003060.3:c.707G>T	NP_003051.1:p.Cys236Phe
XM_011543590.1:c.89G>T	XP_011541892.1:p.Cys30Phe
XR_427718.1:n.1067G>T
XR_948290.1:n.1048G>T
XR_948291.1:n.1061G>T
XM_011543590.2:c.89G>T	XP_011541892.1:p.Cys30Phe
XM_017009778.2:c.179G>T	XP_016865267.1:p.Cys60Phe
XR_001742215.1:n.1048G>T
XR_001742216.1:n.1067G>T
XR_427718.2:n.1067G>T
XR_948290.2:n.1048G>T
XR_948291.2:n.1061G>T
NM_003060.4:c.707G>T MANE Select	NP_003051.1:p.Cys236Phe
NM_001308122.2:c.779G>T	NP_001295051.1:p.Cys260Phe