Canonical Allele Identifier: CA360809748

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729407G>T (hg19) ; chr5:g.132393715G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393715G>T , CM000667.2:g.132393715G>T	GRCh38
NC_000005.9:g.131729407G>T , CM000667.1:g.131729407G>T	GRCh37
NC_000005.8:g.131757306G>T	NCBI36
NG_008982.1:g.29007G>T
NG_008982.2:g.29012G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-470G>T	ENSP00000388838.2:n.1292-470G>T
ENST00000435065.7:c.1562G>T	ENSP00000402760.2:p.Ser521Ile
ENST00000448810.6:c.*342G>T	ENSP00000401860.2:n.*342G>T
ENST00000685543.1:n.1631G>T
ENST00000686757.1:c.*654G>T	ENSP00000510721.1:n.*654G>T
ENST00000686868.1:n.482G>T
ENST00000687740.1:n.4175G>T
ENST00000688151.1:n.2800G>T
ENST00000689271.1:c.1337G>T	ENSP00000510797.1:p.Ser446Ile
ENST00000690900.1:c.*654G>T	ENSP00000510703.1:n.*654G>T
ENST00000692212.1:n.4630G>T
ENST00000692355.1:c.743G>T
ENST00000692413.1:c.1472G>T	ENSP00000509374.1:p.Ser491Ile
ENST00000692825.1:c.1558G>T	ENSP00000509447.1:n.1558G>T
ENST00000693308.1:c.1538G>T	ENSP00000509770.1:p.Ser513Ile
ENST00000693763.1:n.2650G>T
ENST00000245407.8:c.1490G>T MANE Select	ENSP00000245407.3:p.Ser497Ile
ENST00000245407.7:c.1490G>T	ENSP00000245407.3:p.Ser497Ile
ENST00000435065.6:c.1562G>T	ENSP00000402760.2:p.Ser521Ile
ENST00000447841.5:c.334G>T
ENST00000448810.5:c.752G>T
ENST00000461013.5:n.8912G>T
ENST00000475308.1:n.2168G>T
NM_001308122.1:c.1562G>T	NP_001295051.1:p.Ser521Ile
NM_003060.3:c.1490G>T	NP_003051.1:p.Ser497Ile
XM_011543590.1:c.872G>T	XP_011541892.1:p.Ser291Ile
XR_948290.1:n.1616G>T
XM_011543590.2:c.872G>T	XP_011541892.1:p.Ser291Ile
XM_017009778.2:c.962G>T	XP_016865267.1:p.Ser321Ile
XR_001742215.1:n.1745G>T
XR_001742216.1:n.1764G>T
XR_427718.2:n.1850G>T
XR_948290.2:n.1616G>T
XR_948291.2:n.1844G>T
NM_003060.4:c.1490G>T MANE Select	NP_003051.1:p.Ser497Ile
NM_001308122.2:c.1562G>T	NP_001295051.1:p.Ser521Ile