Canonical Allele Identifier: CA360810132

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729882A>G (hg19) ; chr5:g.132394190A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394190A>G , CM000667.2:g.132394190A>G	GRCh38
NC_000005.9:g.131729882A>G , CM000667.1:g.131729882A>G	GRCh37
NC_000005.8:g.131757781A>G	NCBI36
NG_008982.1:g.29482A>G
NG_008982.2:g.29487A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.*1A>G	ENSP00000388838.2:n.*1A>G
ENST00000435065.7:c.1664A>G	ENSP00000402760.2:p.Lys555Arg
ENST00000448810.6:c.*444A>G	ENSP00000401860.2:n.*444A>G
ENST00000685543.1:n.1733A>G
ENST00000686757.1:c.*756A>G	ENSP00000510721.1:n.*756A>G
ENST00000686868.1:n.584A>G
ENST00000687740.1:n.4277A>G
ENST00000688151.1:n.2902A>G
ENST00000689271.1:c.1439A>G	ENSP00000510797.1:p.Lys480Arg
ENST00000690900.1:c.*756A>G	ENSP00000510703.1:n.*756A>G
ENST00000692212.1:n.4732A>G
ENST00000692355.1:c.845A>G
ENST00000692413.1:c.1574A>G	ENSP00000509374.1:p.Lys525Arg
ENST00000692825.1:c.1660A>G	ENSP00000509447.1:n.1660A>G
ENST00000693308.1:c.1640A>G	ENSP00000509770.1:p.Lys547Arg
ENST00000693763.1:n.2752A>G
ENST00000245407.8:c.1592A>G MANE Select	ENSP00000245407.3:p.Lys531Arg
ENST00000245407.7:c.1592A>G	ENSP00000245407.3:p.Lys531Arg
ENST00000435065.6:c.1664A>G	ENSP00000402760.2:p.Lys555Arg
ENST00000447841.5:c.436A>G
ENST00000461013.5:n.9014A>G
ENST00000475308.1:n.2270A>G
NM_001308122.1:c.1664A>G	NP_001295051.1:p.Lys555Arg
NM_003060.3:c.1592A>G	NP_003051.1:p.Lys531Arg
XM_011543590.1:c.974A>G	XP_011541892.1:p.Lys325Arg
XR_948290.1:n.1718A>G
XM_011543590.2:c.974A>G	XP_011541892.1:p.Lys325Arg
XM_017009778.2:c.1064A>G	XP_016865267.1:p.Lys355Arg
XR_001742215.1:n.1847A>G
XR_001742216.1:n.1866A>G
XR_427718.2:n.1952A>G
XR_948290.2:n.1718A>G
XR_948291.2:n.1946A>G
NM_003060.4:c.1592A>G MANE Select	NP_003051.1:p.Lys531Arg
NM_001308122.2:c.1664A>G	NP_001295051.1:p.Lys555Arg