Canonical Allele Identifier: CA360807764

Gene: SLC22A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1057G>T	ENSP00000388838.2:p.Ala353Ser
ENST00000435065.7:c.1288G>T	ENSP00000402760.2:p.Ala430Ser
ENST00000448810.6:c.*68G>T	ENSP00000401860.2:n.*68G>T
ENST00000685543.1:n.1357G>T
ENST00000686757.1:c.*380G>T	ENSP00000510721.1:n.*380G>T
ENST00000687740.1:n.3901G>T
ENST00000688151.1:n.2526G>T
ENST00000689271.1:c.1063G>T	ENSP00000510797.1:p.Ala355Ser
ENST00000690900.1:c.*380G>T	ENSP00000510703.1:n.*380G>T
ENST00000692212.1:n.2828G>T
ENST00000692355.1:c.469G>T
ENST00000692413.1:c.1198G>T	ENSP00000509374.1:p.Ala400Ser
ENST00000692825.1:c.1284G>T	ENSP00000509447.1:n.1284G>T
ENST00000693308.1:c.1264G>T	ENSP00000509770.1:p.Ala422Ser
ENST00000693763.1:n.2376G>T
ENST00000245407.8:c.1216G>T MANE Select	ENSP00000245407.3:p.Ala406Ser
ENST00000245407.7:c.1216G>T	ENSP00000245407.3:p.Ala406Ser
ENST00000435065.6:c.1288G>T	ENSP00000402760.2:p.Ala430Ser
ENST00000447841.5:c.112-1580G>T
ENST00000448810.5:c.478G>T
ENST00000461013.5:n.8638G>T
ENST00000475308.1:n.1894G>T
ENST00000479605.5:n.319G>T
NM_001308122.1:c.1288G>T	NP_001295051.1:p.Ala430Ser
NM_003060.3:c.1216G>T	NP_003051.1:p.Ala406Ser
XM_011543590.1:c.598G>T	XP_011541892.1:p.Ala200Ser
XR_427718.1:n.1576G>T
XR_948290.1:n.1394-1580G>T
XR_948291.1:n.1570G>T
XM_011543590.2:c.598G>T	XP_011541892.1:p.Ala200Ser
XM_017009778.2:c.688G>T	XP_016865267.1:p.Ala230Ser
XR_001742215.1:n.1471G>T
XR_001742216.1:n.1490G>T
XR_427718.2:n.1576G>T
XR_948290.2:n.1394-1580G>T
XR_948291.2:n.1570G>T
NM_003060.4:c.1216G>T MANE Select	NP_003051.1:p.Ala406Ser
NM_001308122.2:c.1288G>T	NP_001295051.1:p.Ala430Ser