Canonical Allele Identifier: CA360807719

Gene: SLC22A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1033C>G	ENSP00000388838.2:p.Pro345Ala
ENST00000435065.7:c.1264C>G	ENSP00000402760.2:p.Pro422Ala
ENST00000448810.6:c.*44C>G	ENSP00000401860.2:n.*44C>G
ENST00000685543.1:n.1333C>G
ENST00000686757.1:c.*356C>G	ENSP00000510721.1:n.*356C>G
ENST00000687740.1:n.3877C>G
ENST00000688151.1:n.2502C>G
ENST00000689271.1:c.1039C>G	ENSP00000510797.1:p.Pro347Ala
ENST00000690900.1:c.*356C>G	ENSP00000510703.1:n.*356C>G
ENST00000692212.1:n.2804C>G
ENST00000692355.1:c.445C>G
ENST00000692413.1:c.1174C>G	ENSP00000509374.1:p.Pro392Ala
ENST00000692825.1:c.1260C>G	ENSP00000509447.1:n.1260C>G
ENST00000693308.1:c.1240C>G	ENSP00000509770.1:p.Pro414Ala
ENST00000693763.1:n.2352C>G
ENST00000245407.8:c.1192C>G MANE Select	ENSP00000245407.3:p.Pro398Ala
ENST00000245407.7:c.1192C>G	ENSP00000245407.3:p.Pro398Ala
ENST00000435065.6:c.1264C>G	ENSP00000402760.2:p.Pro422Ala
ENST00000447841.5:c.112-1604C>G
ENST00000448810.5:c.454C>G
ENST00000461013.5:n.8614C>G
ENST00000475308.1:n.1870C>G
ENST00000479605.5:n.295C>G
NM_001308122.1:c.1264C>G	NP_001295051.1:p.Pro422Ala
NM_003060.3:c.1192C>G	NP_003051.1:p.Pro398Ala
XM_011543590.1:c.574C>G	XP_011541892.1:p.Pro192Ala
XR_427718.1:n.1552C>G
XR_948290.1:n.1394-1604C>G
XR_948291.1:n.1546C>G
XM_011543590.2:c.574C>G	XP_011541892.1:p.Pro192Ala
XM_017009778.2:c.664C>G	XP_016865267.1:p.Pro222Ala
XR_001742215.1:n.1447C>G
XR_001742216.1:n.1466C>G
XR_427718.2:n.1552C>G
XR_948290.2:n.1394-1604C>G
XR_948291.2:n.1546C>G
NM_003060.4:c.1192C>G MANE Select	NP_003051.1:p.Pro398Ala
NM_001308122.2:c.1264C>G	NP_001295051.1:p.Pro422Ala