Canonical Allele Identifier: CA360804960

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132385339-C-A
• MyVariant Identifiers: chr5:g.131721031C>A (hg19) ; chr5:g.132385339C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385339C>A , CM000667.2:g.132385339C>A	GRCh38
NC_000005.9:g.131721031C>A , CM000667.1:g.131721031C>A	GRCh37
NC_000005.8:g.131748930C>A	NCBI36
NG_008982.1:g.20631C>A
NG_008982.2:g.20636C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1025C>A	ENSP00000388838.2:n.665+1025C>A
ENST00000435065.7:c.736C>A	ENSP00000402760.2:p.Leu246Ile
ENST00000448810.6:c.664C>A	ENSP00000401860.2:p.Leu222Ile
ENST00000686757.1:c.683C>A	ENSP00000510721.1:p.Ser228Tyr
ENST00000687740.1:n.1824C>A
ENST00000688151.1:n.1856C>A
ENST00000689271.1:c.671+1019C>A	ENSP00000510797.1:n.671+1019C>A
ENST00000690900.1:c.672-37C>A	ENSP00000510703.1:n.672-37C>A
ENST00000692212.1:n.490C>A
ENST00000692355.1:c.204+1038C>A
ENST00000692413.1:c.683C>A	ENSP00000509374.1:p.Ser228Tyr
ENST00000692825.1:c.732C>A	ENSP00000509447.1:n.732C>A
ENST00000693308.1:c.677C>A	ENSP00000509770.1:p.Ser226Tyr
ENST00000693763.1:n.1824C>A
ENST00000245407.8:c.664C>A MANE Select	ENSP00000245407.3:p.Leu222Ile
ENST00000245407.7:c.664C>A	ENSP00000245407.3:p.Leu222Ile
ENST00000415928.5:c.433C>A	ENSP00000388838.1:p.Leu145Ile
ENST00000435065.6:c.736C>A	ENSP00000402760.2:p.Leu246Ile
ENST00000437841.6:c.405C>A	ENSP00000400553.1:p.Phe135Leu
ENST00000448810.5:c.12C>A
ENST00000461013.5:n.8086C>A
NM_001308122.1:c.736C>A	NP_001295051.1:p.Leu246Ile
NM_003060.3:c.664C>A	NP_003051.1:p.Leu222Ile
XM_011543590.1:c.46C>A	XP_011541892.1:p.Leu16Ile
XR_427718.1:n.1024C>A
XR_948290.1:n.1005C>A
XR_948291.1:n.1018C>A
XM_011543590.2:c.46C>A	XP_011541892.1:p.Leu16Ile
XM_017009778.2:c.136C>A	XP_016865267.1:p.Leu46Ile
XR_001742215.1:n.1005C>A
XR_001742216.1:n.1024C>A
XR_427718.2:n.1024C>A
XR_948290.2:n.1005C>A
XR_948291.2:n.1018C>A
NM_003060.4:c.664C>A MANE Select	NP_003051.1:p.Leu222Ile
NM_001308122.2:c.736C>A	NP_001295051.1:p.Leu246Ile