Canonical Allele Identifier: CA446340132

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390891-G-A
• MyVariant Identifiers: chr5:g.131726583G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390891G>A , CM000667.2:g.132390891G>A	GRCh38
NC_000005.9:g.131726583G>A , CM000667.1:g.131726583G>A	GRCh37
NC_000005.8:g.131754482G>A	NCBI36
NG_008982.1:g.26183G>A
NG_008982.2:g.26188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1095G>A	ENSP00000388838.2:p.Gln365=
ENST00000435065.7:c.1326G>A	ENSP00000402760.2:p.Gln442=
ENST00000448810.6:c.*106G>A	ENSP00000401860.2:n.*106G>A
ENST00000685543.1:n.1395G>A
ENST00000686757.1:c.*418G>A	ENSP00000510721.1:n.*418G>A
ENST00000687740.1:n.3939G>A
ENST00000688151.1:n.2564G>A
ENST00000689271.1:c.1101G>A	ENSP00000510797.1:p.Gln367=
ENST00000690900.1:c.*418G>A	ENSP00000510703.1:n.*418G>A
ENST00000692212.1:n.2866G>A
ENST00000692355.1:c.507G>A
ENST00000692413.1:c.1236G>A	ENSP00000509374.1:p.Gln412=
ENST00000692825.1:c.1322G>A	ENSP00000509447.1:n.1322G>A
ENST00000693308.1:c.1302G>A	ENSP00000509770.1:p.Gln434=
ENST00000693763.1:n.2414G>A
ENST00000245407.8:c.1254G>A MANE Select	ENSP00000245407.3:p.Gln418=
ENST00000245407.7:c.1254G>A	ENSP00000245407.3:p.Gln418=
ENST00000435065.6:c.1326G>A	ENSP00000402760.2:p.Gln442=
ENST00000447841.5:c.112-1542G>A
ENST00000448810.5:c.516G>A
ENST00000461013.5:n.8676G>A
ENST00000475308.1:n.1932G>A
ENST00000479605.5:n.357G>A
NM_001308122.1:c.1326G>A	NP_001295051.1:p.Gln442=
NM_003060.3:c.1254G>A	NP_003051.1:p.Gln418=
XM_011543590.1:c.636G>A	XP_011541892.1:p.Gln212=
XR_427718.1:n.1614G>A
XR_948290.1:n.1394-1542G>A
XR_948291.1:n.1608G>A
XM_011543590.2:c.636G>A	XP_011541892.1:p.Gln212=
XM_017009778.2:c.726G>A	XP_016865267.1:p.Gln242=
XR_001742215.1:n.1509G>A
XR_001742216.1:n.1528G>A
XR_427718.2:n.1614G>A
XR_948290.2:n.1394-1542G>A
XR_948291.2:n.1608G>A
NM_003060.4:c.1254G>A MANE Select	NP_003051.1:p.Gln418=
NM_001308122.2:c.1326G>A	NP_001295051.1:p.Gln442=