Canonical Allele Identifier: CA360807718

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726521C>A (hg19) ; chr5:g.132390829C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390829C>A , CM000667.2:g.132390829C>A	GRCh38
NC_000005.9:g.131726521C>A , CM000667.1:g.131726521C>A	GRCh37
NC_000005.8:g.131754420C>A	NCBI36
NG_008982.1:g.26121C>A
NG_008982.2:g.26126C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1033C>A	ENSP00000388838.2:p.Pro345Thr
ENST00000435065.7:c.1264C>A	ENSP00000402760.2:p.Pro422Thr
ENST00000448810.6:c.*44C>A	ENSP00000401860.2:n.*44C>A
ENST00000685543.1:n.1333C>A
ENST00000686757.1:c.*356C>A	ENSP00000510721.1:n.*356C>A
ENST00000687740.1:n.3877C>A
ENST00000688151.1:n.2502C>A
ENST00000689271.1:c.1039C>A	ENSP00000510797.1:p.Pro347Thr
ENST00000690900.1:c.*356C>A	ENSP00000510703.1:n.*356C>A
ENST00000692212.1:n.2804C>A
ENST00000692355.1:c.445C>A
ENST00000692413.1:c.1174C>A	ENSP00000509374.1:p.Pro392Thr
ENST00000692825.1:c.1260C>A	ENSP00000509447.1:n.1260C>A
ENST00000693308.1:c.1240C>A	ENSP00000509770.1:p.Pro414Thr
ENST00000693763.1:n.2352C>A
ENST00000245407.8:c.1192C>A MANE Select	ENSP00000245407.3:p.Pro398Thr
ENST00000245407.7:c.1192C>A	ENSP00000245407.3:p.Pro398Thr
ENST00000435065.6:c.1264C>A	ENSP00000402760.2:p.Pro422Thr
ENST00000447841.5:c.112-1604C>A
ENST00000448810.5:c.454C>A
ENST00000461013.5:n.8614C>A
ENST00000475308.1:n.1870C>A
ENST00000479605.5:n.295C>A
NM_001308122.1:c.1264C>A	NP_001295051.1:p.Pro422Thr
NM_003060.3:c.1192C>A	NP_003051.1:p.Pro398Thr
XM_011543590.1:c.574C>A	XP_011541892.1:p.Pro192Thr
XR_427718.1:n.1552C>A
XR_948290.1:n.1394-1604C>A
XR_948291.1:n.1546C>A
XM_011543590.2:c.574C>A	XP_011541892.1:p.Pro192Thr
XM_017009778.2:c.664C>A	XP_016865267.1:p.Pro222Thr
XR_001742215.1:n.1447C>A
XR_001742216.1:n.1466C>A
XR_427718.2:n.1552C>A
XR_948290.2:n.1394-1604C>A
XR_948291.2:n.1546C>A
NM_003060.4:c.1192C>A MANE Select	NP_003051.1:p.Pro398Thr
NM_001308122.2:c.1264C>A	NP_001295051.1:p.Pro422Thr