Canonical Allele Identifier: CA360807672

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726500T>A (hg19) ; chr5:g.132390808T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390808T>A , CM000667.2:g.132390808T>A	GRCh38
NC_000005.9:g.131726500T>A , CM000667.1:g.131726500T>A	GRCh37
NC_000005.8:g.131754399T>A	NCBI36
NG_008982.1:g.26100T>A
NG_008982.2:g.26105T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1012T>A	ENSP00000388838.2:p.Trp338Arg
ENST00000435065.7:c.1243T>A	ENSP00000402760.2:p.Trp415Arg
ENST00000448810.6:c.*23T>A	ENSP00000401860.2:n.*23T>A
ENST00000685543.1:n.1312T>A
ENST00000686757.1:c.*335T>A	ENSP00000510721.1:n.*335T>A
ENST00000687740.1:n.3856T>A
ENST00000688151.1:n.2481T>A
ENST00000689271.1:c.1018T>A	ENSP00000510797.1:p.Trp340Arg
ENST00000690900.1:c.*335T>A	ENSP00000510703.1:n.*335T>A
ENST00000692212.1:n.2783T>A
ENST00000692355.1:c.424T>A
ENST00000692413.1:c.1153T>A	ENSP00000509374.1:p.Trp385Arg
ENST00000692825.1:c.1239T>A	ENSP00000509447.1:n.1239T>A
ENST00000693308.1:c.1219T>A	ENSP00000509770.1:p.Trp407Arg
ENST00000693763.1:n.2331T>A
ENST00000245407.8:c.1171T>A MANE Select	ENSP00000245407.3:p.Trp391Arg
ENST00000245407.7:c.1171T>A	ENSP00000245407.3:p.Trp391Arg
ENST00000435065.6:c.1243T>A	ENSP00000402760.2:p.Trp415Arg
ENST00000447841.5:c.112-1625T>A
ENST00000448810.5:c.433T>A
ENST00000461013.5:n.8593T>A
ENST00000475308.1:n.1849T>A
ENST00000479605.5:n.274T>A
NM_001308122.1:c.1243T>A	NP_001295051.1:p.Trp415Arg
NM_003060.3:c.1171T>A	NP_003051.1:p.Trp391Arg
XM_011543590.1:c.553T>A	XP_011541892.1:p.Trp185Arg
XR_427718.1:n.1531T>A
XR_948290.1:n.1394-1625T>A
XR_948291.1:n.1525T>A
XM_011543590.2:c.553T>A	XP_011541892.1:p.Trp185Arg
XM_017009778.2:c.643T>A	XP_016865267.1:p.Trp215Arg
XR_001742215.1:n.1426T>A
XR_001742216.1:n.1445T>A
XR_427718.2:n.1531T>A
XR_948290.2:n.1394-1625T>A
XR_948291.2:n.1525T>A
NM_003060.4:c.1171T>A MANE Select	NP_003051.1:p.Trp391Arg
NM_001308122.2:c.1243T>A	NP_001295051.1:p.Trp415Arg