Canonical Allele Identifier: CA360807352

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726382G>T (hg19) ; chr5:g.132390690G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390690G>T , CM000667.2:g.132390690G>T	GRCh38
NC_000005.9:g.131726382G>T , CM000667.1:g.131726382G>T	GRCh37
NC_000005.8:g.131754281G>T	NCBI36
NG_008982.1:g.25982G>T
NG_008982.2:g.25987G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.894G>T	ENSP00000388838.2:p.Trp298Cys
ENST00000435065.7:c.1125G>T	ENSP00000402760.2:p.Trp375Cys
ENST00000448810.6:c.1053-86G>T	ENSP00000401860.2:n.1053-86G>T
ENST00000685543.1:n.1194G>T
ENST00000686757.1:c.*217G>T	ENSP00000510721.1:n.*217G>T
ENST00000687740.1:n.3738G>T
ENST00000688151.1:n.2363G>T
ENST00000689271.1:c.900G>T	ENSP00000510797.1:p.Trp300Cys
ENST00000690900.1:c.*217G>T	ENSP00000510703.1:n.*217G>T
ENST00000692212.1:n.2665G>T
ENST00000692355.1:c.306G>T
ENST00000692413.1:c.1035G>T	ENSP00000509374.1:p.Trp345Cys
ENST00000692825.1:c.1121G>T	ENSP00000509447.1:n.1121G>T
ENST00000693308.1:c.1101G>T	ENSP00000509770.1:p.Trp367Cys
ENST00000693763.1:n.2213G>T
ENST00000245407.8:c.1053G>T MANE Select	ENSP00000245407.3:p.Trp351Cys
ENST00000245407.7:c.1053G>T	ENSP00000245407.3:p.Trp351Cys
ENST00000435065.6:c.1125G>T	ENSP00000402760.2:p.Trp375Cys
ENST00000447841.5:c.111+1669G>T
ENST00000448810.5:c.401-86G>T
ENST00000461013.5:n.8475G>T
ENST00000475308.1:n.1731G>T
ENST00000479605.5:n.156G>T
NM_001308122.1:c.1125G>T	NP_001295051.1:p.Trp375Cys
NM_003060.3:c.1053G>T	NP_003051.1:p.Trp351Cys
XM_011543590.1:c.435G>T	XP_011541892.1:p.Trp145Cys
XR_427718.1:n.1413G>T
XR_948290.1:n.1393+1669G>T
XR_948291.1:n.1407G>T
XM_011543590.2:c.435G>T	XP_011541892.1:p.Trp145Cys
XM_017009778.2:c.525G>T	XP_016865267.1:p.Trp175Cys
XR_001742215.1:n.1394-86G>T
XR_001742216.1:n.1413-86G>T
XR_427718.2:n.1413G>T
XR_948290.2:n.1393+1669G>T
XR_948291.2:n.1407G>T
NM_003060.4:c.1053G>T MANE Select	NP_003051.1:p.Trp351Cys
NM_001308122.2:c.1125G>T	NP_001295051.1:p.Trp375Cys