Canonical Allele Identifier: CA360807614

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726472G>T (hg19) ; chr5:g.132390780G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390780G>T , CM000667.2:g.132390780G>T	GRCh38
NC_000005.9:g.131726472G>T , CM000667.1:g.131726472G>T	GRCh37
NC_000005.8:g.131754371G>T	NCBI36
NG_008982.1:g.26072G>T
NG_008982.2:g.26077G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.984G>T	ENSP00000388838.2:p.Met328Ile
ENST00000435065.7:c.1215G>T	ENSP00000402760.2:p.Met405Ile
ENST00000448810.6:c.1057G>T	ENSP00000401860.2:p.Gly353Cys
ENST00000685543.1:n.1284G>T
ENST00000686757.1:c.*307G>T	ENSP00000510721.1:n.*307G>T
ENST00000687740.1:n.3828G>T
ENST00000688151.1:n.2453G>T
ENST00000689271.1:c.990G>T	ENSP00000510797.1:p.Met330Ile
ENST00000690900.1:c.*307G>T	ENSP00000510703.1:n.*307G>T
ENST00000692212.1:n.2755G>T
ENST00000692355.1:c.396G>T
ENST00000692413.1:c.1125G>T	ENSP00000509374.1:p.Met375Ile
ENST00000692825.1:c.1211G>T	ENSP00000509447.1:n.1211G>T
ENST00000693308.1:c.1191G>T	ENSP00000509770.1:p.Met397Ile
ENST00000693763.1:n.2303G>T
ENST00000245407.8:c.1143G>T MANE Select	ENSP00000245407.3:p.Met381Ile
ENST00000245407.7:c.1143G>T	ENSP00000245407.3:p.Met381Ile
ENST00000435065.6:c.1215G>T	ENSP00000402760.2:p.Met405Ile
ENST00000447841.5:c.112-1653G>T
ENST00000448810.5:c.405G>T
ENST00000461013.5:n.8565G>T
ENST00000475308.1:n.1821G>T
ENST00000479605.5:n.246G>T
NM_001308122.1:c.1215G>T	NP_001295051.1:p.Met405Ile
NM_003060.3:c.1143G>T	NP_003051.1:p.Met381Ile
XM_011543590.1:c.525G>T	XP_011541892.1:p.Met175Ile
XR_427718.1:n.1503G>T
XR_948290.1:n.1394-1653G>T
XR_948291.1:n.1497G>T
XM_011543590.2:c.525G>T	XP_011541892.1:p.Met175Ile
XM_017009778.2:c.615G>T	XP_016865267.1:p.Met205Ile
XR_001742215.1:n.1398G>T
XR_001742216.1:n.1417G>T
XR_427718.2:n.1503G>T
XR_948290.2:n.1394-1653G>T
XR_948291.2:n.1497G>T
NM_003060.4:c.1143G>T MANE Select	NP_003051.1:p.Met381Ile
NM_001308122.2:c.1215G>T	NP_001295051.1:p.Met405Ile