Canonical Allele Identifier: CA360805152

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721123C>G (hg19) ; chr5:g.132385431C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385431C>G , CM000667.2:g.132385431C>G	GRCh38
NC_000005.9:g.131721123C>G , CM000667.1:g.131721123C>G	GRCh37
NC_000005.8:g.131749022C>G	NCBI36
NG_008982.1:g.20723C>G
NG_008982.2:g.20728C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1117C>G	ENSP00000388838.2:n.665+1117C>G
ENST00000435065.7:c.828C>G	ENSP00000402760.2:p.Phe276Leu
ENST00000448810.6:c.756C>G	ENSP00000401860.2:p.Phe252Leu
ENST00000686757.1:c.775C>G	ENSP00000510721.1:p.His259Asp
ENST00000687740.1:n.1916C>G
ENST00000688151.1:n.1948C>G
ENST00000689271.1:c.671+1111C>G	ENSP00000510797.1:n.671+1111C>G
ENST00000690900.1:c.727C>G	ENSP00000510703.1:p.His243Asp
ENST00000692212.1:n.582C>G
ENST00000692355.1:c.204+1130C>G
ENST00000692413.1:c.775C>G	ENSP00000509374.1:p.His259Asp
ENST00000692825.1:c.824C>G	ENSP00000509447.1:n.824C>G
ENST00000693308.1:c.769C>G	ENSP00000509770.1:p.His257Asp
ENST00000693763.1:n.1916C>G
ENST00000245407.8:c.756C>G MANE Select	ENSP00000245407.3:p.Phe252Leu
ENST00000245407.7:c.756C>G	ENSP00000245407.3:p.Phe252Leu
ENST00000415928.5:c.525C>G	ENSP00000388838.1:p.Phe175Leu
ENST00000435065.6:c.828C>G	ENSP00000402760.2:p.Phe276Leu
ENST00000437841.6:c.*71C>G	ENSP00000400553.1:n.*71C>G
ENST00000448810.5:c.104C>G
ENST00000461013.5:n.8178C>G
NM_001308122.1:c.828C>G	NP_001295051.1:p.Phe276Leu
NM_003060.3:c.756C>G	NP_003051.1:p.Phe252Leu
XM_011543590.1:c.138C>G	XP_011541892.1:p.Phe46Leu
XR_427718.1:n.1116C>G
XR_948290.1:n.1097C>G
XR_948291.1:n.1110C>G
XM_011543590.2:c.138C>G	XP_011541892.1:p.Phe46Leu
XM_017009778.2:c.228C>G	XP_016865267.1:p.Phe76Leu
XR_001742215.1:n.1097C>G
XR_001742216.1:n.1116C>G
XR_427718.2:n.1116C>G
XR_948290.2:n.1097C>G
XR_948291.2:n.1110C>G
NM_003060.4:c.756C>G MANE Select	NP_003051.1:p.Phe252Leu
NM_001308122.2:c.828C>G	NP_001295051.1:p.Phe276Leu