Canonical Allele Identifier: CA360807673

Gene: SLC22A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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