Canonical Allele Identifier: CA360805062

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1752489940
• gnomAD v4: 5-132385391-A-G
• MyVariant Identifiers: chr5:g.131721083A>G (hg19) ; chr5:g.132385391A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385391A>G , CM000667.2:g.132385391A>G	GRCh38
NC_000005.9:g.131721083A>G , CM000667.1:g.131721083A>G	GRCh37
NC_000005.8:g.131748982A>G	NCBI36
NG_008982.1:g.20683A>G
NG_008982.2:g.20688A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1077A>G	ENSP00000388838.2:n.665+1077A>G
ENST00000435065.7:c.788A>G	ENSP00000402760.2:p.Tyr263Cys
ENST00000448810.6:c.716A>G	ENSP00000401860.2:p.Tyr239Cys
ENST00000686757.1:c.735A>G	ENSP00000510721.1:p.Leu245=
ENST00000687740.1:n.1876A>G
ENST00000688151.1:n.1908A>G
ENST00000689271.1:c.671+1071A>G	ENSP00000510797.1:n.671+1071A>G
ENST00000690900.1:c.687A>G	ENSP00000510703.1:p.Leu229=
ENST00000692212.1:n.542A>G
ENST00000692355.1:c.204+1090A>G
ENST00000692413.1:c.735A>G	ENSP00000509374.1:p.Leu245=
ENST00000692825.1:c.784A>G	ENSP00000509447.1:n.784A>G
ENST00000693308.1:c.729A>G	ENSP00000509770.1:p.Leu243=
ENST00000693763.1:n.1876A>G
ENST00000245407.8:c.716A>G MANE Select	ENSP00000245407.3:p.Tyr239Cys
ENST00000245407.7:c.716A>G	ENSP00000245407.3:p.Tyr239Cys
ENST00000415928.5:c.485A>G	ENSP00000388838.1:p.Tyr162Cys
ENST00000435065.6:c.788A>G	ENSP00000402760.2:p.Tyr263Cys
ENST00000437841.6:c.*31A>G	ENSP00000400553.1:n.*31A>G
ENST00000448810.5:c.64A>G
ENST00000461013.5:n.8138A>G
NM_001308122.1:c.788A>G	NP_001295051.1:p.Tyr263Cys
NM_003060.3:c.716A>G	NP_003051.1:p.Tyr239Cys
XM_011543590.1:c.98A>G	XP_011541892.1:p.Tyr33Cys
XR_427718.1:n.1076A>G
XR_948290.1:n.1057A>G
XR_948291.1:n.1070A>G
XM_011543590.2:c.98A>G	XP_011541892.1:p.Tyr33Cys
XM_017009778.2:c.188A>G	XP_016865267.1:p.Tyr63Cys
XR_001742215.1:n.1057A>G
XR_001742216.1:n.1076A>G
XR_427718.2:n.1076A>G
XR_948290.2:n.1057A>G
XR_948291.2:n.1070A>G
NM_003060.4:c.716A>G MANE Select	NP_003051.1:p.Tyr239Cys
NM_001308122.2:c.788A>G	NP_001295051.1:p.Tyr263Cys