Canonical Allele Identifier: CA360807711

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726518T>G (hg19) ; chr5:g.132390826T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390826T>G , CM000667.2:g.132390826T>G	GRCh38
NC_000005.9:g.131726518T>G , CM000667.1:g.131726518T>G	GRCh37
NC_000005.8:g.131754417T>G	NCBI36
NG_008982.1:g.26118T>G
NG_008982.2:g.26123T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1030T>G	ENSP00000388838.2:p.Leu344Val
ENST00000435065.7:c.1261T>G	ENSP00000402760.2:p.Leu421Val
ENST00000448810.6:c.*41T>G	ENSP00000401860.2:n.*41T>G
ENST00000685543.1:n.1330T>G
ENST00000686757.1:c.*353T>G	ENSP00000510721.1:n.*353T>G
ENST00000687740.1:n.3874T>G
ENST00000688151.1:n.2499T>G
ENST00000689271.1:c.1036T>G	ENSP00000510797.1:p.Leu346Val
ENST00000690900.1:c.*353T>G	ENSP00000510703.1:n.*353T>G
ENST00000692212.1:n.2801T>G
ENST00000692355.1:c.442T>G
ENST00000692413.1:c.1171T>G	ENSP00000509374.1:p.Leu391Val
ENST00000692825.1:c.1257T>G	ENSP00000509447.1:n.1257T>G
ENST00000693308.1:c.1237T>G	ENSP00000509770.1:p.Leu413Val
ENST00000693763.1:n.2349T>G
ENST00000245407.8:c.1189T>G MANE Select	ENSP00000245407.3:p.Leu397Val
ENST00000245407.7:c.1189T>G	ENSP00000245407.3:p.Leu397Val
ENST00000435065.6:c.1261T>G	ENSP00000402760.2:p.Leu421Val
ENST00000447841.5:c.112-1607T>G
ENST00000448810.5:c.451T>G
ENST00000461013.5:n.8611T>G
ENST00000475308.1:n.1867T>G
ENST00000479605.5:n.292T>G
NM_001308122.1:c.1261T>G	NP_001295051.1:p.Leu421Val
NM_003060.3:c.1189T>G	NP_003051.1:p.Leu397Val
XM_011543590.1:c.571T>G	XP_011541892.1:p.Leu191Val
XR_427718.1:n.1549T>G
XR_948290.1:n.1394-1607T>G
XR_948291.1:n.1543T>G
XM_011543590.2:c.571T>G	XP_011541892.1:p.Leu191Val
XM_017009778.2:c.661T>G	XP_016865267.1:p.Leu221Val
XR_001742215.1:n.1444T>G
XR_001742216.1:n.1463T>G
XR_427718.2:n.1549T>G
XR_948290.2:n.1394-1607T>G
XR_948291.2:n.1543T>G
NM_003060.4:c.1189T>G MANE Select	NP_003051.1:p.Leu397Val
NM_001308122.2:c.1261T>G	NP_001295051.1:p.Leu421Val