Canonical Allele Identifier: CA360805556

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722746T>G (hg19) ; chr5:g.132387054T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387054T>G , CM000667.2:g.132387054T>G	GRCh38
NC_000005.9:g.131722746T>G , CM000667.1:g.131722746T>G	GRCh37
NC_000005.8:g.131750645T>G	NCBI36
NG_008982.1:g.22346T>G
NG_008982.2:g.22351T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.695T>G	ENSP00000388838.2:p.Ile232Ser
ENST00000435065.7:c.926T>G	ENSP00000402760.2:p.Ile309Ser
ENST00000448810.6:c.854T>G	ENSP00000401860.2:p.Ile285Ser
ENST00000686757.1:c.*18T>G	ENSP00000510721.1:n.*18T>G
ENST00000687740.1:n.3539T>G
ENST00000688151.1:n.2164T>G
ENST00000689271.1:c.701T>G	ENSP00000510797.1:p.Ile234Ser
ENST00000690900.1:c.*18T>G	ENSP00000510703.1:n.*18T>G
ENST00000692212.1:n.798T>G
ENST00000692355.1:c.205-1867T>G
ENST00000692413.1:c.844-8T>G	ENSP00000509374.1:n.844-8T>G
ENST00000692825.1:c.922T>G	ENSP00000509447.1:n.922T>G
ENST00000693308.1:c.902T>G	ENSP00000509770.1:p.Ile301Ser
ENST00000693763.1:n.2014T>G
ENST00000245407.8:c.854T>G MANE Select	ENSP00000245407.3:p.Ile285Ser
ENST00000245407.7:c.854T>G	ENSP00000245407.3:p.Ile285Ser
ENST00000415928.5:c.623T>G	ENSP00000388838.1:p.Ile208Ser
ENST00000435065.6:c.926T>G	ENSP00000402760.2:p.Ile309Ser
ENST00000437841.6:c.*169T>G	ENSP00000400553.1:n.*169T>G
ENST00000448810.5:c.202T>G
ENST00000461013.5:n.8276T>G
NM_001308122.1:c.926T>G	NP_001295051.1:p.Ile309Ser
NM_003060.3:c.854T>G	NP_003051.1:p.Ile285Ser
XM_011543590.1:c.236T>G	XP_011541892.1:p.Ile79Ser
XR_427718.1:n.1214T>G
XR_948290.1:n.1195T>G
XR_948291.1:n.1208T>G
XM_011543590.2:c.236T>G	XP_011541892.1:p.Ile79Ser
XM_017009778.2:c.326T>G	XP_016865267.1:p.Ile109Ser
XR_001742215.1:n.1195T>G
XR_001742216.1:n.1214T>G
XR_427718.2:n.1214T>G
XR_948290.2:n.1195T>G
XR_948291.2:n.1208T>G
NM_003060.4:c.854T>G MANE Select	NP_003051.1:p.Ile285Ser
NM_001308122.2:c.926T>G	NP_001295051.1:p.Ile309Ser