Canonical Allele Identifier: CA360807675

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726501G>T (hg19) ; chr5:g.132390809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390809G>T , CM000667.2:g.132390809G>T	GRCh38
NC_000005.9:g.131726501G>T , CM000667.1:g.131726501G>T	GRCh37
NC_000005.8:g.131754400G>T	NCBI36
NG_008982.1:g.26101G>T
NG_008982.2:g.26106G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1013G>T	ENSP00000388838.2:p.Trp338Leu
ENST00000435065.7:c.1244G>T	ENSP00000402760.2:p.Trp415Leu
ENST00000448810.6:c.*24G>T	ENSP00000401860.2:n.*24G>T
ENST00000685543.1:n.1313G>T
ENST00000686757.1:c.*336G>T	ENSP00000510721.1:n.*336G>T
ENST00000687740.1:n.3857G>T
ENST00000688151.1:n.2482G>T
ENST00000689271.1:c.1019G>T	ENSP00000510797.1:p.Trp340Leu
ENST00000690900.1:c.*336G>T	ENSP00000510703.1:n.*336G>T
ENST00000692212.1:n.2784G>T
ENST00000692355.1:c.425G>T
ENST00000692413.1:c.1154G>T	ENSP00000509374.1:p.Trp385Leu
ENST00000692825.1:c.1240G>T	ENSP00000509447.1:n.1240G>T
ENST00000693308.1:c.1220G>T	ENSP00000509770.1:p.Trp407Leu
ENST00000693763.1:n.2332G>T
ENST00000245407.8:c.1172G>T MANE Select	ENSP00000245407.3:p.Trp391Leu
ENST00000245407.7:c.1172G>T	ENSP00000245407.3:p.Trp391Leu
ENST00000435065.6:c.1244G>T	ENSP00000402760.2:p.Trp415Leu
ENST00000447841.5:c.112-1624G>T
ENST00000448810.5:c.434G>T
ENST00000461013.5:n.8594G>T
ENST00000475308.1:n.1850G>T
ENST00000479605.5:n.275G>T
NM_001308122.1:c.1244G>T	NP_001295051.1:p.Trp415Leu
NM_003060.3:c.1172G>T	NP_003051.1:p.Trp391Leu
XM_011543590.1:c.554G>T	XP_011541892.1:p.Trp185Leu
XR_427718.1:n.1532G>T
XR_948290.1:n.1394-1624G>T
XR_948291.1:n.1526G>T
XM_011543590.2:c.554G>T	XP_011541892.1:p.Trp185Leu
XM_017009778.2:c.644G>T	XP_016865267.1:p.Trp215Leu
XR_001742215.1:n.1427G>T
XR_001742216.1:n.1446G>T
XR_427718.2:n.1532G>T
XR_948290.2:n.1394-1624G>T
XR_948291.2:n.1526G>T
NM_003060.4:c.1172G>T MANE Select	NP_003051.1:p.Trp391Leu
NM_001308122.2:c.1244G>T	NP_001295051.1:p.Trp415Leu