Canonical Allele Identifier: CA360804968

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721034G>T (hg19) ; chr5:g.132385342G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385342G>T , CM000667.2:g.132385342G>T	GRCh38
NC_000005.9:g.131721034G>T , CM000667.1:g.131721034G>T	GRCh37
NC_000005.8:g.131748933G>T	NCBI36
NG_008982.1:g.20634G>T
NG_008982.2:g.20639G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1028G>T	ENSP00000388838.2:n.665+1028G>T
ENST00000435065.7:c.739G>T	ENSP00000402760.2:p.Gly247Cys
ENST00000448810.6:c.667G>T	ENSP00000401860.2:p.Gly223Cys
ENST00000686757.1:c.686G>T	ENSP00000510721.1:p.Trp229Leu
ENST00000687740.1:n.1827G>T
ENST00000688151.1:n.1859G>T
ENST00000689271.1:c.671+1022G>T	ENSP00000510797.1:n.671+1022G>T
ENST00000690900.1:c.672-34G>T	ENSP00000510703.1:n.672-34G>T
ENST00000692212.1:n.493G>T
ENST00000692355.1:c.204+1041G>T
ENST00000692413.1:c.686G>T	ENSP00000509374.1:p.Trp229Leu
ENST00000692825.1:c.735G>T	ENSP00000509447.1:n.735G>T
ENST00000693308.1:c.680G>T	ENSP00000509770.1:p.Trp227Leu
ENST00000693763.1:n.1827G>T
ENST00000245407.8:c.667G>T MANE Select	ENSP00000245407.3:p.Gly223Cys
ENST00000245407.7:c.667G>T	ENSP00000245407.3:p.Gly223Cys
ENST00000415928.5:c.436G>T	ENSP00000388838.1:p.Gly146Cys
ENST00000435065.6:c.739G>T	ENSP00000402760.2:p.Gly247Cys
ENST00000437841.6:c.408G>T	ENSP00000400553.1:p.Leu136Phe
ENST00000448810.5:c.15G>T
ENST00000461013.5:n.8089G>T
NM_001308122.1:c.739G>T	NP_001295051.1:p.Gly247Cys
NM_003060.3:c.667G>T	NP_003051.1:p.Gly223Cys
XM_011543590.1:c.49G>T	XP_011541892.1:p.Gly17Cys
XR_427718.1:n.1027G>T
XR_948290.1:n.1008G>T
XR_948291.1:n.1021G>T
XM_011543590.2:c.49G>T	XP_011541892.1:p.Gly17Cys
XM_017009778.2:c.139G>T	XP_016865267.1:p.Gly47Cys
XR_001742215.1:n.1008G>T
XR_001742216.1:n.1027G>T
XR_427718.2:n.1027G>T
XR_948290.2:n.1008G>T
XR_948291.2:n.1021G>T
NM_003060.4:c.667G>T MANE Select	NP_003051.1:p.Gly223Cys
NM_001308122.2:c.739G>T	NP_001295051.1:p.Gly247Cys