Canonical Allele Identifier: CA360807756

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726540C>A (hg19) ; chr5:g.132390848C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390848C>A , CM000667.2:g.132390848C>A	GRCh38
NC_000005.9:g.131726540C>A , CM000667.1:g.131726540C>A	GRCh37
NC_000005.8:g.131754439C>A	NCBI36
NG_008982.1:g.26140C>A
NG_008982.2:g.26145C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1052C>A	ENSP00000388838.2:p.Ala351Asp
ENST00000435065.7:c.1283C>A	ENSP00000402760.2:p.Ala428Asp
ENST00000448810.6:c.*63C>A	ENSP00000401860.2:n.*63C>A
ENST00000685543.1:n.1352C>A
ENST00000686757.1:c.*375C>A	ENSP00000510721.1:n.*375C>A
ENST00000687740.1:n.3896C>A
ENST00000688151.1:n.2521C>A
ENST00000689271.1:c.1058C>A	ENSP00000510797.1:p.Ala353Asp
ENST00000690900.1:c.*375C>A	ENSP00000510703.1:n.*375C>A
ENST00000692212.1:n.2823C>A
ENST00000692355.1:c.464C>A
ENST00000692413.1:c.1193C>A	ENSP00000509374.1:p.Ala398Asp
ENST00000692825.1:c.1279C>A	ENSP00000509447.1:n.1279C>A
ENST00000693308.1:c.1259C>A	ENSP00000509770.1:p.Ala420Asp
ENST00000693763.1:n.2371C>A
ENST00000245407.8:c.1211C>A MANE Select	ENSP00000245407.3:p.Ala404Asp
ENST00000245407.7:c.1211C>A	ENSP00000245407.3:p.Ala404Asp
ENST00000435065.6:c.1283C>A	ENSP00000402760.2:p.Ala428Asp
ENST00000447841.5:c.112-1585C>A
ENST00000448810.5:c.473C>A
ENST00000461013.5:n.8633C>A
ENST00000475308.1:n.1889C>A
ENST00000479605.5:n.314C>A
NM_001308122.1:c.1283C>A	NP_001295051.1:p.Ala428Asp
NM_003060.3:c.1211C>A	NP_003051.1:p.Ala404Asp
XM_011543590.1:c.593C>A	XP_011541892.1:p.Ala198Asp
XR_427718.1:n.1571C>A
XR_948290.1:n.1394-1585C>A
XR_948291.1:n.1565C>A
XM_011543590.2:c.593C>A	XP_011541892.1:p.Ala198Asp
XM_017009778.2:c.683C>A	XP_016865267.1:p.Ala228Asp
XR_001742215.1:n.1466C>A
XR_001742216.1:n.1485C>A
XR_427718.2:n.1571C>A
XR_948290.2:n.1394-1585C>A
XR_948291.2:n.1565C>A
NM_003060.4:c.1211C>A MANE Select	NP_003051.1:p.Ala404Asp
NM_001308122.2:c.1283C>A	NP_001295051.1:p.Ala428Asp