Canonical Allele Identifier: CA360807864

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390902-C-A
• MyVariant Identifiers: chr5:g.131726594C>A (hg19) ; chr5:g.132390902C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390902C>A , CM000667.2:g.132390902C>A	GRCh38
NC_000005.9:g.131726594C>A , CM000667.1:g.131726594C>A	GRCh37
NC_000005.8:g.131754493C>A	NCBI36
NG_008982.1:g.26194C>A
NG_008982.2:g.26199C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1106C>A	ENSP00000388838.2:p.Pro369Gln
ENST00000435065.7:c.1337C>A	ENSP00000402760.2:p.Pro446Gln
ENST00000448810.6:c.*117C>A	ENSP00000401860.2:n.*117C>A
ENST00000685543.1:n.1406C>A
ENST00000686757.1:c.*429C>A	ENSP00000510721.1:n.*429C>A
ENST00000687740.1:n.3950C>A
ENST00000688151.1:n.2575C>A
ENST00000689271.1:c.1112C>A	ENSP00000510797.1:p.Pro371Gln
ENST00000690900.1:c.*429C>A	ENSP00000510703.1:n.*429C>A
ENST00000692212.1:n.2877C>A
ENST00000692355.1:c.518C>A
ENST00000692413.1:c.1247C>A	ENSP00000509374.1:p.Pro416Gln
ENST00000692825.1:c.1333C>A	ENSP00000509447.1:n.1333C>A
ENST00000693308.1:c.1313C>A	ENSP00000509770.1:p.Pro438Gln
ENST00000693763.1:n.2425C>A
ENST00000245407.8:c.1265C>A MANE Select	ENSP00000245407.3:p.Pro422Gln
ENST00000245407.7:c.1265C>A	ENSP00000245407.3:p.Pro422Gln
ENST00000435065.6:c.1337C>A	ENSP00000402760.2:p.Pro446Gln
ENST00000447841.5:c.112-1531C>A
ENST00000448810.5:c.527C>A
ENST00000461013.5:n.8687C>A
ENST00000475308.1:n.1943C>A
ENST00000479605.5:n.368C>A
NM_001308122.1:c.1337C>A	NP_001295051.1:p.Pro446Gln
NM_003060.3:c.1265C>A	NP_003051.1:p.Pro422Gln
XM_011543590.1:c.647C>A	XP_011541892.1:p.Pro216Gln
XR_427718.1:n.1625C>A
XR_948290.1:n.1394-1531C>A
XR_948291.1:n.1619C>A
XM_011543590.2:c.647C>A	XP_011541892.1:p.Pro216Gln
XM_017009778.2:c.737C>A	XP_016865267.1:p.Pro246Gln
XR_001742215.1:n.1520C>A
XR_001742216.1:n.1539C>A
XR_427718.2:n.1625C>A
XR_948290.2:n.1394-1531C>A
XR_948291.2:n.1619C>A
NM_003060.4:c.1265C>A MANE Select	NP_003051.1:p.Pro422Gln
NM_001308122.2:c.1337C>A	NP_001295051.1:p.Pro446Gln