Canonical Allele Identifier: CA360809841

Gene: SLC22A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-440T>G	ENSP00000388838.2:n.1292-440T>G
ENST00000435065.7:c.1592T>G	ENSP00000402760.2:p.Leu531Trp
ENST00000448810.6:c.*372T>G	ENSP00000401860.2:n.*372T>G
ENST00000685543.1:n.1661T>G
ENST00000686757.1:c.*684T>G	ENSP00000510721.1:n.*684T>G
ENST00000686868.1:n.512T>G
ENST00000687740.1:n.4205T>G
ENST00000688151.1:n.2830T>G
ENST00000689271.1:c.1367T>G	ENSP00000510797.1:p.Leu456Trp
ENST00000690900.1:c.*684T>G	ENSP00000510703.1:n.*684T>G
ENST00000692212.1:n.4660T>G
ENST00000692355.1:c.773T>G
ENST00000692413.1:c.1502T>G	ENSP00000509374.1:p.Leu501Trp
ENST00000692825.1:c.1588T>G	ENSP00000509447.1:n.1588T>G
ENST00000693308.1:c.1568T>G	ENSP00000509770.1:p.Leu523Trp
ENST00000693763.1:n.2680T>G
ENST00000245407.8:c.1520T>G MANE Select	ENSP00000245407.3:p.Leu507Trp
ENST00000245407.7:c.1520T>G	ENSP00000245407.3:p.Leu507Trp
ENST00000435065.6:c.1592T>G	ENSP00000402760.2:p.Leu531Trp
ENST00000447841.5:c.364T>G
ENST00000448810.5:c.782T>G
ENST00000461013.5:n.8942T>G
ENST00000475308.1:n.2198T>G
NM_001308122.1:c.1592T>G	NP_001295051.1:p.Leu531Trp
NM_003060.3:c.1520T>G	NP_003051.1:p.Leu507Trp
XM_011543590.1:c.902T>G	XP_011541892.1:p.Leu301Trp
XR_948290.1:n.1646T>G
XM_011543590.2:c.902T>G	XP_011541892.1:p.Leu301Trp
XM_017009778.2:c.992T>G	XP_016865267.1:p.Leu331Trp
XR_001742215.1:n.1775T>G
XR_001742216.1:n.1794T>G
XR_427718.2:n.1880T>G
XR_948290.2:n.1646T>G
XR_948291.2:n.1874T>G
NM_003060.4:c.1520T>G MANE Select	NP_003051.1:p.Leu507Trp
NM_001308122.2:c.1592T>G	NP_001295051.1:p.Leu531Trp