Canonical Allele Identifier: CA360807810

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726569C>A (hg19) ; chr5:g.132390877C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390877C>A , CM000667.2:g.132390877C>A	GRCh38
NC_000005.9:g.131726569C>A , CM000667.1:g.131726569C>A	GRCh37
NC_000005.8:g.131754468C>A	NCBI36
NG_008982.1:g.26169C>A
NG_008982.2:g.26174C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1081C>A	ENSP00000388838.2:p.Leu361Ile
ENST00000435065.7:c.1312C>A	ENSP00000402760.2:p.Leu438Ile
ENST00000448810.6:c.*92C>A	ENSP00000401860.2:n.*92C>A
ENST00000685543.1:n.1381C>A
ENST00000686757.1:c.*404C>A	ENSP00000510721.1:n.*404C>A
ENST00000687740.1:n.3925C>A
ENST00000688151.1:n.2550C>A
ENST00000689271.1:c.1087C>A	ENSP00000510797.1:p.Leu363Ile
ENST00000690900.1:c.*404C>A	ENSP00000510703.1:n.*404C>A
ENST00000692212.1:n.2852C>A
ENST00000692355.1:c.493C>A
ENST00000692413.1:c.1222C>A	ENSP00000509374.1:p.Leu408Ile
ENST00000692825.1:c.1308C>A	ENSP00000509447.1:n.1308C>A
ENST00000693308.1:c.1288C>A	ENSP00000509770.1:p.Leu430Ile
ENST00000693763.1:n.2400C>A
ENST00000245407.8:c.1240C>A MANE Select	ENSP00000245407.3:p.Leu414Ile
ENST00000245407.7:c.1240C>A	ENSP00000245407.3:p.Leu414Ile
ENST00000435065.6:c.1312C>A	ENSP00000402760.2:p.Leu438Ile
ENST00000447841.5:c.112-1556C>A
ENST00000448810.5:c.502C>A
ENST00000461013.5:n.8662C>A
ENST00000475308.1:n.1918C>A
ENST00000479605.5:n.343C>A
NM_001308122.1:c.1312C>A	NP_001295051.1:p.Leu438Ile
NM_003060.3:c.1240C>A	NP_003051.1:p.Leu414Ile
XM_011543590.1:c.622C>A	XP_011541892.1:p.Leu208Ile
XR_427718.1:n.1600C>A
XR_948290.1:n.1394-1556C>A
XR_948291.1:n.1594C>A
XM_011543590.2:c.622C>A	XP_011541892.1:p.Leu208Ile
XM_017009778.2:c.712C>A	XP_016865267.1:p.Leu238Ile
XR_001742215.1:n.1495C>A
XR_001742216.1:n.1514C>A
XR_427718.2:n.1600C>A
XR_948290.2:n.1394-1556C>A
XR_948291.2:n.1594C>A
NM_003060.4:c.1240C>A MANE Select	NP_003051.1:p.Leu414Ile
NM_001308122.2:c.1312C>A	NP_001295051.1:p.Leu438Ile