Canonical Allele Identifier: CA360807611

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726471T>G (hg19) ; chr5:g.132390779T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390779T>G , CM000667.2:g.132390779T>G	GRCh38
NC_000005.9:g.131726471T>G , CM000667.1:g.131726471T>G	GRCh37
NC_000005.8:g.131754370T>G	NCBI36
NG_008982.1:g.26071T>G
NG_008982.2:g.26076T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.983T>G	ENSP00000388838.2:p.Met328Arg
ENST00000435065.7:c.1214T>G	ENSP00000402760.2:p.Met405Arg
ENST00000448810.6:c.1056T>G	ENSP00000401860.2:p.Asp352Glu
ENST00000685543.1:n.1283T>G
ENST00000686757.1:c.*306T>G	ENSP00000510721.1:n.*306T>G
ENST00000687740.1:n.3827T>G
ENST00000688151.1:n.2452T>G
ENST00000689271.1:c.989T>G	ENSP00000510797.1:p.Met330Arg
ENST00000690900.1:c.*306T>G	ENSP00000510703.1:n.*306T>G
ENST00000692212.1:n.2754T>G
ENST00000692355.1:c.395T>G
ENST00000692413.1:c.1124T>G	ENSP00000509374.1:p.Met375Arg
ENST00000692825.1:c.1210T>G	ENSP00000509447.1:n.1210T>G
ENST00000693308.1:c.1190T>G	ENSP00000509770.1:p.Met397Arg
ENST00000693763.1:n.2302T>G
ENST00000245407.8:c.1142T>G MANE Select	ENSP00000245407.3:p.Met381Arg
ENST00000245407.7:c.1142T>G	ENSP00000245407.3:p.Met381Arg
ENST00000435065.6:c.1214T>G	ENSP00000402760.2:p.Met405Arg
ENST00000447841.5:c.112-1654T>G
ENST00000448810.5:c.404T>G
ENST00000461013.5:n.8564T>G
ENST00000475308.1:n.1820T>G
ENST00000479605.5:n.245T>G
NM_001308122.1:c.1214T>G	NP_001295051.1:p.Met405Arg
NM_003060.3:c.1142T>G	NP_003051.1:p.Met381Arg
XM_011543590.1:c.524T>G	XP_011541892.1:p.Met175Arg
XR_427718.1:n.1502T>G
XR_948290.1:n.1394-1654T>G
XR_948291.1:n.1496T>G
XM_011543590.2:c.524T>G	XP_011541892.1:p.Met175Arg
XM_017009778.2:c.614T>G	XP_016865267.1:p.Met205Arg
XR_001742215.1:n.1397T>G
XR_001742216.1:n.1416T>G
XR_427718.2:n.1502T>G
XR_948290.2:n.1394-1654T>G
XR_948291.2:n.1496T>G
NM_003060.4:c.1142T>G MANE Select	NP_003051.1:p.Met381Arg
NM_001308122.2:c.1214T>G	NP_001295051.1:p.Met405Arg