Canonical Allele Identifier: CA360807766

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726545G>A (hg19) ; chr5:g.132390853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390853G>A , CM000667.2:g.132390853G>A	GRCh38
NC_000005.9:g.131726545G>A , CM000667.1:g.131726545G>A	GRCh37
NC_000005.8:g.131754444G>A	NCBI36
NG_008982.1:g.26145G>A
NG_008982.2:g.26150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1057G>A	ENSP00000388838.2:p.Ala353Thr
ENST00000435065.7:c.1288G>A	ENSP00000402760.2:p.Ala430Thr
ENST00000448810.6:c.*68G>A	ENSP00000401860.2:n.*68G>A
ENST00000685543.1:n.1357G>A
ENST00000686757.1:c.*380G>A	ENSP00000510721.1:n.*380G>A
ENST00000687740.1:n.3901G>A
ENST00000688151.1:n.2526G>A
ENST00000689271.1:c.1063G>A	ENSP00000510797.1:p.Ala355Thr
ENST00000690900.1:c.*380G>A	ENSP00000510703.1:n.*380G>A
ENST00000692212.1:n.2828G>A
ENST00000692355.1:c.469G>A
ENST00000692413.1:c.1198G>A	ENSP00000509374.1:p.Ala400Thr
ENST00000692825.1:c.1284G>A	ENSP00000509447.1:n.1284G>A
ENST00000693308.1:c.1264G>A	ENSP00000509770.1:p.Ala422Thr
ENST00000693763.1:n.2376G>A
ENST00000245407.8:c.1216G>A MANE Select	ENSP00000245407.3:p.Ala406Thr
ENST00000245407.7:c.1216G>A	ENSP00000245407.3:p.Ala406Thr
ENST00000435065.6:c.1288G>A	ENSP00000402760.2:p.Ala430Thr
ENST00000447841.5:c.112-1580G>A
ENST00000448810.5:c.478G>A
ENST00000461013.5:n.8638G>A
ENST00000475308.1:n.1894G>A
ENST00000479605.5:n.319G>A
NM_001308122.1:c.1288G>A	NP_001295051.1:p.Ala430Thr
NM_003060.3:c.1216G>A	NP_003051.1:p.Ala406Thr
XM_011543590.1:c.598G>A	XP_011541892.1:p.Ala200Thr
XR_427718.1:n.1576G>A
XR_948290.1:n.1394-1580G>A
XR_948291.1:n.1570G>A
XM_011543590.2:c.598G>A	XP_011541892.1:p.Ala200Thr
XM_017009778.2:c.688G>A	XP_016865267.1:p.Ala230Thr
XR_001742215.1:n.1471G>A
XR_001742216.1:n.1490G>A
XR_427718.2:n.1576G>A
XR_948290.2:n.1394-1580G>A
XR_948291.2:n.1570G>A
NM_003060.4:c.1216G>A MANE Select	NP_003051.1:p.Ala406Thr
NM_001308122.2:c.1288G>A	NP_001295051.1:p.Ala430Thr