Canonical Allele Identifier: CA360809720

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729398T>A (hg19) ; chr5:g.132393706T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393706T>A , CM000667.2:g.132393706T>A	GRCh38
NC_000005.9:g.131729398T>A , CM000667.1:g.131729398T>A	GRCh37
NC_000005.8:g.131757297T>A	NCBI36
NG_008982.1:g.28998T>A
NG_008982.2:g.29003T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-479T>A	ENSP00000388838.2:n.1292-479T>A
ENST00000435065.7:c.1553T>A	ENSP00000402760.2:p.Leu518His
ENST00000448810.6:c.*333T>A	ENSP00000401860.2:n.*333T>A
ENST00000685543.1:n.1622T>A
ENST00000686757.1:c.*645T>A	ENSP00000510721.1:n.*645T>A
ENST00000686868.1:n.473T>A
ENST00000687740.1:n.4166T>A
ENST00000688151.1:n.2791T>A
ENST00000689271.1:c.1328T>A	ENSP00000510797.1:p.Leu443His
ENST00000690900.1:c.*645T>A	ENSP00000510703.1:n.*645T>A
ENST00000692212.1:n.4621T>A
ENST00000692355.1:c.734T>A
ENST00000692413.1:c.1463T>A	ENSP00000509374.1:p.Leu488His
ENST00000692825.1:c.1549T>A	ENSP00000509447.1:n.1549T>A
ENST00000693308.1:c.1529T>A	ENSP00000509770.1:p.Leu510His
ENST00000693763.1:n.2641T>A
ENST00000245407.8:c.1481T>A MANE Select	ENSP00000245407.3:p.Leu494His
ENST00000245407.7:c.1481T>A	ENSP00000245407.3:p.Leu494His
ENST00000435065.6:c.1553T>A	ENSP00000402760.2:p.Leu518His
ENST00000447841.5:c.325T>A
ENST00000448810.5:c.743T>A
ENST00000461013.5:n.8903T>A
ENST00000475308.1:n.2159T>A
NM_001308122.1:c.1553T>A	NP_001295051.1:p.Leu518His
NM_003060.3:c.1481T>A	NP_003051.1:p.Leu494His
XM_011543590.1:c.863T>A	XP_011541892.1:p.Leu288His
XR_948290.1:n.1607T>A
XM_011543590.2:c.863T>A	XP_011541892.1:p.Leu288His
XM_017009778.2:c.953T>A	XP_016865267.1:p.Leu318His
XR_001742215.1:n.1736T>A
XR_001742216.1:n.1755T>A
XR_427718.2:n.1841T>A
XR_948290.2:n.1607T>A
XR_948291.2:n.1835T>A
NM_003060.4:c.1481T>A MANE Select	NP_003051.1:p.Leu494His
NM_001308122.2:c.1553T>A	NP_001295051.1:p.Leu518His