Canonical Allele Identifier: CA360807656

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726492T>A (hg19) ; chr5:g.132390800T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390800T>A , CM000667.2:g.132390800T>A	GRCh38
NC_000005.9:g.131726492T>A , CM000667.1:g.131726492T>A	GRCh37
NC_000005.8:g.131754391T>A	NCBI36
NG_008982.1:g.26092T>A
NG_008982.2:g.26097T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1004T>A	ENSP00000388838.2:p.Val335Glu
ENST00000435065.7:c.1235T>A	ENSP00000402760.2:p.Val412Glu
ENST00000448810.6:c.*15T>A	ENSP00000401860.2:n.*15T>A
ENST00000685543.1:n.1304T>A
ENST00000686757.1:c.*327T>A	ENSP00000510721.1:n.*327T>A
ENST00000687740.1:n.3848T>A
ENST00000688151.1:n.2473T>A
ENST00000689271.1:c.1010T>A	ENSP00000510797.1:p.Val337Glu
ENST00000690900.1:c.*327T>A	ENSP00000510703.1:n.*327T>A
ENST00000692212.1:n.2775T>A
ENST00000692355.1:c.416T>A
ENST00000692413.1:c.1145T>A	ENSP00000509374.1:p.Val382Glu
ENST00000692825.1:c.1231T>A	ENSP00000509447.1:n.1231T>A
ENST00000693308.1:c.1211T>A	ENSP00000509770.1:p.Val404Glu
ENST00000693763.1:n.2323T>A
ENST00000245407.8:c.1163T>A MANE Select	ENSP00000245407.3:p.Val388Glu
ENST00000245407.7:c.1163T>A	ENSP00000245407.3:p.Val388Glu
ENST00000435065.6:c.1235T>A	ENSP00000402760.2:p.Val412Glu
ENST00000447841.5:c.112-1633T>A
ENST00000448810.5:c.425T>A
ENST00000461013.5:n.8585T>A
ENST00000475308.1:n.1841T>A
ENST00000479605.5:n.266T>A
NM_001308122.1:c.1235T>A	NP_001295051.1:p.Val412Glu
NM_003060.3:c.1163T>A	NP_003051.1:p.Val388Glu
XM_011543590.1:c.545T>A	XP_011541892.1:p.Val182Glu
XR_427718.1:n.1523T>A
XR_948290.1:n.1394-1633T>A
XR_948291.1:n.1517T>A
XM_011543590.2:c.545T>A	XP_011541892.1:p.Val182Glu
XM_017009778.2:c.635T>A	XP_016865267.1:p.Val212Glu
XR_001742215.1:n.1418T>A
XR_001742216.1:n.1437T>A
XR_427718.2:n.1523T>A
XR_948290.2:n.1394-1633T>A
XR_948291.2:n.1517T>A
NM_003060.4:c.1163T>A MANE Select	NP_003051.1:p.Val388Glu
NM_001308122.2:c.1235T>A	NP_001295051.1:p.Val412Glu