Canonical Allele Identifier: CA360807698

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726513A>C (hg19) ; chr5:g.132390821A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390821A>C , CM000667.2:g.132390821A>C	GRCh38
NC_000005.9:g.131726513A>C , CM000667.1:g.131726513A>C	GRCh37
NC_000005.8:g.131754412A>C	NCBI36
NG_008982.1:g.26113A>C
NG_008982.2:g.26118A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1025A>C	ENSP00000388838.2:p.Gln342Pro
ENST00000435065.7:c.1256A>C	ENSP00000402760.2:p.Gln419Pro
ENST00000448810.6:c.*36A>C	ENSP00000401860.2:n.*36A>C
ENST00000685543.1:n.1325A>C
ENST00000686757.1:c.*348A>C	ENSP00000510721.1:n.*348A>C
ENST00000687740.1:n.3869A>C
ENST00000688151.1:n.2494A>C
ENST00000689271.1:c.1031A>C	ENSP00000510797.1:p.Gln344Pro
ENST00000690900.1:c.*348A>C	ENSP00000510703.1:n.*348A>C
ENST00000692212.1:n.2796A>C
ENST00000692355.1:c.437A>C
ENST00000692413.1:c.1166A>C	ENSP00000509374.1:p.Gln389Pro
ENST00000692825.1:c.1252A>C	ENSP00000509447.1:n.1252A>C
ENST00000693308.1:c.1232A>C	ENSP00000509770.1:p.Gln411Pro
ENST00000693763.1:n.2344A>C
ENST00000245407.8:c.1184A>C MANE Select	ENSP00000245407.3:p.Gln395Pro
ENST00000245407.7:c.1184A>C	ENSP00000245407.3:p.Gln395Pro
ENST00000435065.6:c.1256A>C	ENSP00000402760.2:p.Gln419Pro
ENST00000447841.5:c.112-1612A>C
ENST00000448810.5:c.446A>C
ENST00000461013.5:n.8606A>C
ENST00000475308.1:n.1862A>C
ENST00000479605.5:n.287A>C
NM_001308122.1:c.1256A>C	NP_001295051.1:p.Gln419Pro
NM_003060.3:c.1184A>C	NP_003051.1:p.Gln395Pro
XM_011543590.1:c.566A>C	XP_011541892.1:p.Gln189Pro
XR_427718.1:n.1544A>C
XR_948290.1:n.1394-1612A>C
XR_948291.1:n.1538A>C
XM_011543590.2:c.566A>C	XP_011541892.1:p.Gln189Pro
XM_017009778.2:c.656A>C	XP_016865267.1:p.Gln219Pro
XR_001742215.1:n.1439A>C
XR_001742216.1:n.1458A>C
XR_427718.2:n.1544A>C
XR_948290.2:n.1394-1612A>C
XR_948291.2:n.1538A>C
NM_003060.4:c.1184A>C MANE Select	NP_003051.1:p.Gln395Pro
NM_001308122.2:c.1256A>C	NP_001295051.1:p.Gln419Pro