Canonical Allele Identifier: CA360807424

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726398G>T (hg19) ; chr5:g.132390706G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390706G>T , CM000667.2:g.132390706G>T	GRCh38
NC_000005.9:g.131726398G>T , CM000667.1:g.131726398G>T	GRCh37
NC_000005.8:g.131754297G>T	NCBI36
NG_008982.1:g.25998G>T
NG_008982.2:g.26003G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.910G>T	ENSP00000388838.2:p.Gly304Cys
ENST00000435065.7:c.1141G>T	ENSP00000402760.2:p.Gly381Cys
ENST00000448810.6:c.1053-70G>T	ENSP00000401860.2:n.1053-70G>T
ENST00000685543.1:n.1210G>T
ENST00000686757.1:c.*233G>T	ENSP00000510721.1:n.*233G>T
ENST00000687740.1:n.3754G>T
ENST00000688151.1:n.2379G>T
ENST00000689271.1:c.916G>T	ENSP00000510797.1:p.Gly306Cys
ENST00000690900.1:c.*233G>T	ENSP00000510703.1:n.*233G>T
ENST00000692212.1:n.2681G>T
ENST00000692355.1:c.322G>T
ENST00000692413.1:c.1051G>T	ENSP00000509374.1:p.Gly351Cys
ENST00000692825.1:c.1137G>T	ENSP00000509447.1:n.1137G>T
ENST00000693308.1:c.1117G>T	ENSP00000509770.1:p.Gly373Cys
ENST00000693763.1:n.2229G>T
ENST00000245407.8:c.1069G>T MANE Select	ENSP00000245407.3:p.Gly357Cys
ENST00000245407.7:c.1069G>T	ENSP00000245407.3:p.Gly357Cys
ENST00000435065.6:c.1141G>T	ENSP00000402760.2:p.Gly381Cys
ENST00000447841.5:c.111+1685G>T
ENST00000448810.5:c.401-70G>T
ENST00000461013.5:n.8491G>T
ENST00000475308.1:n.1747G>T
ENST00000479605.5:n.172G>T
NM_001308122.1:c.1141G>T	NP_001295051.1:p.Gly381Cys
NM_003060.3:c.1069G>T	NP_003051.1:p.Gly357Cys
XM_011543590.1:c.451G>T	XP_011541892.1:p.Gly151Cys
XR_427718.1:n.1429G>T
XR_948290.1:n.1393+1685G>T
XR_948291.1:n.1423G>T
XM_011543590.2:c.451G>T	XP_011541892.1:p.Gly151Cys
XM_017009778.2:c.541G>T	XP_016865267.1:p.Gly181Cys
XR_001742215.1:n.1394-70G>T
XR_001742216.1:n.1413-70G>T
XR_427718.2:n.1429G>T
XR_948290.2:n.1393+1685G>T
XR_948291.2:n.1423G>T
NM_003060.4:c.1069G>T MANE Select	NP_003051.1:p.Gly357Cys
NM_001308122.2:c.1141G>T	NP_001295051.1:p.Gly381Cys