Canonical Allele Identifier: CA360807524

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390739-T-G
• MyVariant Identifiers: chr5:g.131726431T>G (hg19) ; chr5:g.132390739T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390739T>G , CM000667.2:g.132390739T>G	GRCh38
NC_000005.9:g.131726431T>G , CM000667.1:g.131726431T>G	GRCh37
NC_000005.8:g.131754330T>G	NCBI36
NG_008982.1:g.26031T>G
NG_008982.2:g.26036T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.943T>G	ENSP00000388838.2:p.Leu315Val
ENST00000435065.7:c.1174T>G	ENSP00000402760.2:p.Leu392Val
ENST00000448810.6:c.1053-37T>G	ENSP00000401860.2:n.1053-37T>G
ENST00000685543.1:n.1243T>G
ENST00000686757.1:c.*266T>G	ENSP00000510721.1:n.*266T>G
ENST00000687740.1:n.3787T>G
ENST00000688151.1:n.2412T>G
ENST00000689271.1:c.949T>G	ENSP00000510797.1:p.Leu317Val
ENST00000690900.1:c.*266T>G	ENSP00000510703.1:n.*266T>G
ENST00000692212.1:n.2714T>G
ENST00000692355.1:c.355T>G
ENST00000692413.1:c.1084T>G	ENSP00000509374.1:p.Leu362Val
ENST00000692825.1:c.1170T>G	ENSP00000509447.1:n.1170T>G
ENST00000693308.1:c.1150T>G	ENSP00000509770.1:p.Leu384Val
ENST00000693763.1:n.2262T>G
ENST00000245407.8:c.1102T>G MANE Select	ENSP00000245407.3:p.Leu368Val
ENST00000245407.7:c.1102T>G	ENSP00000245407.3:p.Leu368Val
ENST00000435065.6:c.1174T>G	ENSP00000402760.2:p.Leu392Val
ENST00000447841.5:c.112-1694T>G
ENST00000448810.5:c.401-37T>G
ENST00000461013.5:n.8524T>G
ENST00000475308.1:n.1780T>G
ENST00000479605.5:n.205T>G
NM_001308122.1:c.1174T>G	NP_001295051.1:p.Leu392Val
NM_003060.3:c.1102T>G	NP_003051.1:p.Leu368Val
XM_011543590.1:c.484T>G	XP_011541892.1:p.Leu162Val
XR_427718.1:n.1462T>G
XR_948290.1:n.1394-1694T>G
XR_948291.1:n.1456T>G
XM_011543590.2:c.484T>G	XP_011541892.1:p.Leu162Val
XM_017009778.2:c.574T>G	XP_016865267.1:p.Leu192Val
XR_001742215.1:n.1394-37T>G
XR_001742216.1:n.1413-37T>G
XR_427718.2:n.1462T>G
XR_948290.2:n.1394-1694T>G
XR_948291.2:n.1456T>G
NM_003060.4:c.1102T>G MANE Select	NP_003051.1:p.Leu368Val
NM_001308122.2:c.1174T>G	NP_001295051.1:p.Leu392Val