Canonical Allele Identifier: CA360807376

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390695-C-A
• MyVariant Identifiers: chr5:g.131726387C>A (hg19) ; chr5:g.132390695C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390695C>A , CM000667.2:g.132390695C>A	GRCh38
NC_000005.9:g.131726387C>A , CM000667.1:g.131726387C>A	GRCh37
NC_000005.8:g.131754286C>A	NCBI36
NG_008982.1:g.25987C>A
NG_008982.2:g.25992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.899C>A	ENSP00000388838.2:p.Thr300Asn
ENST00000435065.7:c.1130C>A	ENSP00000402760.2:p.Thr377Asn
ENST00000448810.6:c.1053-81C>A	ENSP00000401860.2:n.1053-81C>A
ENST00000685543.1:n.1199C>A
ENST00000686757.1:c.*222C>A	ENSP00000510721.1:n.*222C>A
ENST00000687740.1:n.3743C>A
ENST00000688151.1:n.2368C>A
ENST00000689271.1:c.905C>A	ENSP00000510797.1:p.Thr302Asn
ENST00000690900.1:c.*222C>A	ENSP00000510703.1:n.*222C>A
ENST00000692212.1:n.2670C>A
ENST00000692355.1:c.311C>A
ENST00000692413.1:c.1040C>A	ENSP00000509374.1:p.Thr347Asn
ENST00000692825.1:c.1126C>A	ENSP00000509447.1:n.1126C>A
ENST00000693308.1:c.1106C>A	ENSP00000509770.1:p.Thr369Asn
ENST00000693763.1:n.2218C>A
ENST00000245407.8:c.1058C>A MANE Select	ENSP00000245407.3:p.Thr353Asn
ENST00000245407.7:c.1058C>A	ENSP00000245407.3:p.Thr353Asn
ENST00000435065.6:c.1130C>A	ENSP00000402760.2:p.Thr377Asn
ENST00000447841.5:c.111+1674C>A
ENST00000448810.5:c.401-81C>A
ENST00000461013.5:n.8480C>A
ENST00000475308.1:n.1736C>A
ENST00000479605.5:n.161C>A
NM_001308122.1:c.1130C>A	NP_001295051.1:p.Thr377Asn
NM_003060.3:c.1058C>A	NP_003051.1:p.Thr353Asn
XM_011543590.1:c.440C>A	XP_011541892.1:p.Thr147Asn
XR_427718.1:n.1418C>A
XR_948290.1:n.1393+1674C>A
XR_948291.1:n.1412C>A
XM_011543590.2:c.440C>A	XP_011541892.1:p.Thr147Asn
XM_017009778.2:c.530C>A	XP_016865267.1:p.Thr177Asn
XR_001742215.1:n.1394-81C>A
XR_001742216.1:n.1413-81C>A
XR_427718.2:n.1418C>A
XR_948290.2:n.1393+1674C>A
XR_948291.2:n.1412C>A
NM_003060.4:c.1058C>A MANE Select	NP_003051.1:p.Thr353Asn
NM_001308122.2:c.1130C>A	NP_001295051.1:p.Thr377Asn