Canonical Allele Identifier: CA360810192

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729897C>G (hg19) ; chr5:g.132394205C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394205C>G , CM000667.2:g.132394205C>G	GRCh38
NC_000005.9:g.131729897C>G , CM000667.1:g.131729897C>G	GRCh37
NC_000005.8:g.131757796C>G	NCBI36
NG_008982.1:g.29497C>G
NG_008982.2:g.29502C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.*16C>G	ENSP00000388838.2:n.*16C>G
ENST00000435065.7:c.1679C>G	ENSP00000402760.2:p.Pro560Arg
ENST00000448810.6:c.*459C>G	ENSP00000401860.2:n.*459C>G
ENST00000685543.1:n.1748C>G
ENST00000686757.1:c.*771C>G	ENSP00000510721.1:n.*771C>G
ENST00000686868.1:n.599C>G
ENST00000687740.1:n.4292C>G
ENST00000688151.1:n.2917C>G
ENST00000689271.1:c.1454C>G	ENSP00000510797.1:p.Pro485Arg
ENST00000690900.1:c.*771C>G	ENSP00000510703.1:n.*771C>G
ENST00000692212.1:n.4747C>G
ENST00000692355.1:c.860C>G
ENST00000692413.1:c.1589C>G	ENSP00000509374.1:p.Pro530Arg
ENST00000692825.1:c.1675C>G	ENSP00000509447.1:n.1675C>G
ENST00000693308.1:c.1655C>G	ENSP00000509770.1:p.Pro552Arg
ENST00000693763.1:n.2767C>G
ENST00000245407.8:c.1607C>G MANE Select	ENSP00000245407.3:p.Pro536Arg
ENST00000245407.7:c.1607C>G	ENSP00000245407.3:p.Pro536Arg
ENST00000435065.6:c.1679C>G	ENSP00000402760.2:p.Pro560Arg
ENST00000447841.5:c.451C>G
ENST00000461013.5:n.9029C>G
ENST00000475308.1:n.2285C>G
NM_001308122.1:c.1679C>G	NP_001295051.1:p.Pro560Arg
NM_003060.3:c.1607C>G	NP_003051.1:p.Pro536Arg
XM_011543590.1:c.989C>G	XP_011541892.1:p.Pro330Arg
XR_948290.1:n.1733C>G
XM_011543590.2:c.989C>G	XP_011541892.1:p.Pro330Arg
XM_017009778.2:c.1079C>G	XP_016865267.1:p.Pro360Arg
XR_001742215.1:n.1862C>G
XR_001742216.1:n.1881C>G
XR_427718.2:n.1967C>G
XR_948290.2:n.1733C>G
XR_948291.2:n.1961C>G
NM_003060.4:c.1607C>G MANE Select	NP_003051.1:p.Pro536Arg
NM_001308122.2:c.1679C>G	NP_001295051.1:p.Pro560Arg