Canonical Allele Identifier: CA360807767

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726546C>G (hg19) ; chr5:g.132390854C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390854C>G , CM000667.2:g.132390854C>G	GRCh38
NC_000005.9:g.131726546C>G , CM000667.1:g.131726546C>G	GRCh37
NC_000005.8:g.131754445C>G	NCBI36
NG_008982.1:g.26146C>G
NG_008982.2:g.26151C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1058C>G	ENSP00000388838.2:p.Ala353Gly
ENST00000435065.7:c.1289C>G	ENSP00000402760.2:p.Ala430Gly
ENST00000448810.6:c.*69C>G	ENSP00000401860.2:n.*69C>G
ENST00000685543.1:n.1358C>G
ENST00000686757.1:c.*381C>G	ENSP00000510721.1:n.*381C>G
ENST00000687740.1:n.3902C>G
ENST00000688151.1:n.2527C>G
ENST00000689271.1:c.1064C>G	ENSP00000510797.1:p.Ala355Gly
ENST00000690900.1:c.*381C>G	ENSP00000510703.1:n.*381C>G
ENST00000692212.1:n.2829C>G
ENST00000692355.1:c.470C>G
ENST00000692413.1:c.1199C>G	ENSP00000509374.1:p.Ala400Gly
ENST00000692825.1:c.1285C>G	ENSP00000509447.1:n.1285C>G
ENST00000693308.1:c.1265C>G	ENSP00000509770.1:p.Ala422Gly
ENST00000693763.1:n.2377C>G
ENST00000245407.8:c.1217C>G MANE Select	ENSP00000245407.3:p.Ala406Gly
ENST00000245407.7:c.1217C>G	ENSP00000245407.3:p.Ala406Gly
ENST00000435065.6:c.1289C>G	ENSP00000402760.2:p.Ala430Gly
ENST00000447841.5:c.112-1579C>G
ENST00000448810.5:c.479C>G
ENST00000461013.5:n.8639C>G
ENST00000475308.1:n.1895C>G
ENST00000479605.5:n.320C>G
NM_001308122.1:c.1289C>G	NP_001295051.1:p.Ala430Gly
NM_003060.3:c.1217C>G	NP_003051.1:p.Ala406Gly
XM_011543590.1:c.599C>G	XP_011541892.1:p.Ala200Gly
XR_427718.1:n.1577C>G
XR_948290.1:n.1394-1579C>G
XR_948291.1:n.1571C>G
XM_011543590.2:c.599C>G	XP_011541892.1:p.Ala200Gly
XM_017009778.2:c.689C>G	XP_016865267.1:p.Ala230Gly
XR_001742215.1:n.1472C>G
XR_001742216.1:n.1491C>G
XR_427718.2:n.1577C>G
XR_948290.2:n.1394-1579C>G
XR_948291.2:n.1571C>G
NM_003060.4:c.1217C>G MANE Select	NP_003051.1:p.Ala406Gly
NM_001308122.2:c.1289C>G	NP_001295051.1:p.Ala430Gly