Canonical Allele Identifier: CA360809839

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729437T>A (hg19) ; chr5:g.132393745T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393745T>A , CM000667.2:g.132393745T>A	GRCh38
NC_000005.9:g.131729437T>A , CM000667.1:g.131729437T>A	GRCh37
NC_000005.8:g.131757336T>A	NCBI36
NG_008982.1:g.29037T>A
NG_008982.2:g.29042T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-440T>A	ENSP00000388838.2:n.1292-440T>A
ENST00000435065.7:c.1592T>A	ENSP00000402760.2:p.Leu531Ter
ENST00000448810.6:c.*372T>A	ENSP00000401860.2:n.*372T>A
ENST00000685543.1:n.1661T>A
ENST00000686757.1:c.*684T>A	ENSP00000510721.1:n.*684T>A
ENST00000686868.1:n.512T>A
ENST00000687740.1:n.4205T>A
ENST00000688151.1:n.2830T>A
ENST00000689271.1:c.1367T>A	ENSP00000510797.1:p.Leu456Ter
ENST00000690900.1:c.*684T>A	ENSP00000510703.1:n.*684T>A
ENST00000692212.1:n.4660T>A
ENST00000692355.1:c.773T>A
ENST00000692413.1:c.1502T>A	ENSP00000509374.1:p.Leu501Ter
ENST00000692825.1:c.1588T>A	ENSP00000509447.1:n.1588T>A
ENST00000693308.1:c.1568T>A	ENSP00000509770.1:p.Leu523Ter
ENST00000693763.1:n.2680T>A
ENST00000245407.8:c.1520T>A MANE Select	ENSP00000245407.3:p.Leu507Ter
ENST00000245407.7:c.1520T>A	ENSP00000245407.3:p.Leu507Ter
ENST00000435065.6:c.1592T>A	ENSP00000402760.2:p.Leu531Ter
ENST00000447841.5:c.364T>A
ENST00000448810.5:c.782T>A
ENST00000461013.5:n.8942T>A
ENST00000475308.1:n.2198T>A
NM_001308122.1:c.1592T>A	NP_001295051.1:p.Leu531Ter
NM_003060.3:c.1520T>A	NP_003051.1:p.Leu507Ter
XM_011543590.1:c.902T>A	XP_011541892.1:p.Leu301Ter
XR_948290.1:n.1646T>A
XM_011543590.2:c.902T>A	XP_011541892.1:p.Leu301Ter
XM_017009778.2:c.992T>A	XP_016865267.1:p.Leu331Ter
XR_001742215.1:n.1775T>A
XR_001742216.1:n.1794T>A
XR_427718.2:n.1880T>A
XR_948290.2:n.1646T>A
XR_948291.2:n.1874T>A
NM_003060.4:c.1520T>A MANE Select	NP_003051.1:p.Leu507Ter
NM_001308122.2:c.1592T>A	NP_001295051.1:p.Leu531Ter