Canonical Allele Identifier: CA360807836

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726580G>T (hg19) ; chr5:g.132390888G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390888G>T , CM000667.2:g.132390888G>T	GRCh38
NC_000005.9:g.131726580G>T , CM000667.1:g.131726580G>T	GRCh37
NC_000005.8:g.131754479G>T	NCBI36
NG_008982.1:g.26180G>T
NG_008982.2:g.26185G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1092G>T	ENSP00000388838.2:p.Met364Ile
ENST00000435065.7:c.1323G>T	ENSP00000402760.2:p.Met441Ile
ENST00000448810.6:c.*103G>T	ENSP00000401860.2:n.*103G>T
ENST00000685543.1:n.1392G>T
ENST00000686757.1:c.*415G>T	ENSP00000510721.1:n.*415G>T
ENST00000687740.1:n.3936G>T
ENST00000688151.1:n.2561G>T
ENST00000689271.1:c.1098G>T	ENSP00000510797.1:p.Met366Ile
ENST00000690900.1:c.*415G>T	ENSP00000510703.1:n.*415G>T
ENST00000692212.1:n.2863G>T
ENST00000692355.1:c.504G>T
ENST00000692413.1:c.1233G>T	ENSP00000509374.1:p.Met411Ile
ENST00000692825.1:c.1319G>T	ENSP00000509447.1:n.1319G>T
ENST00000693308.1:c.1299G>T	ENSP00000509770.1:p.Met433Ile
ENST00000693763.1:n.2411G>T
ENST00000245407.8:c.1251G>T MANE Select	ENSP00000245407.3:p.Met417Ile
ENST00000245407.7:c.1251G>T	ENSP00000245407.3:p.Met417Ile
ENST00000435065.6:c.1323G>T	ENSP00000402760.2:p.Met441Ile
ENST00000447841.5:c.112-1545G>T
ENST00000448810.5:c.513G>T
ENST00000461013.5:n.8673G>T
ENST00000475308.1:n.1929G>T
ENST00000479605.5:n.354G>T
NM_001308122.1:c.1323G>T	NP_001295051.1:p.Met441Ile
NM_003060.3:c.1251G>T	NP_003051.1:p.Met417Ile
XM_011543590.1:c.633G>T	XP_011541892.1:p.Met211Ile
XR_427718.1:n.1611G>T
XR_948290.1:n.1394-1545G>T
XR_948291.1:n.1605G>T
XM_011543590.2:c.633G>T	XP_011541892.1:p.Met211Ile
XM_017009778.2:c.723G>T	XP_016865267.1:p.Met241Ile
XR_001742215.1:n.1506G>T
XR_001742216.1:n.1525G>T
XR_427718.2:n.1611G>T
XR_948290.2:n.1394-1545G>T
XR_948291.2:n.1605G>T
NM_003060.4:c.1251G>T MANE Select	NP_003051.1:p.Met417Ile
NM_001308122.2:c.1323G>T	NP_001295051.1:p.Met441Ile