Canonical Allele Identifier: CA360809659

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132393696-C-A
• MyVariant Identifiers: chr5:g.131729388C>A (hg19) ; chr5:g.132393696C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393696C>A , CM000667.2:g.132393696C>A	GRCh38
NC_000005.9:g.131729388C>A , CM000667.1:g.131729388C>A	GRCh37
NC_000005.8:g.131757287C>A	NCBI36
NG_008982.1:g.28988C>A
NG_008982.2:g.28993C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-489C>A	ENSP00000388838.2:n.1292-489C>A
ENST00000435065.7:c.1543C>A	ENSP00000402760.2:p.Pro515Thr
ENST00000448810.6:c.*323C>A	ENSP00000401860.2:n.*323C>A
ENST00000685543.1:n.1612C>A
ENST00000686757.1:c.*635C>A	ENSP00000510721.1:n.*635C>A
ENST00000686868.1:n.463C>A
ENST00000687740.1:n.4156C>A
ENST00000688151.1:n.2781C>A
ENST00000689271.1:c.1318C>A	ENSP00000510797.1:p.Pro440Thr
ENST00000690900.1:c.*635C>A	ENSP00000510703.1:n.*635C>A
ENST00000692212.1:n.4611C>A
ENST00000692355.1:c.724C>A
ENST00000692413.1:c.1453C>A	ENSP00000509374.1:p.Pro485Thr
ENST00000692825.1:c.1539C>A	ENSP00000509447.1:n.1539C>A
ENST00000693308.1:c.1519C>A	ENSP00000509770.1:p.Pro507Thr
ENST00000693763.1:n.2631C>A
ENST00000245407.8:c.1471C>A MANE Select	ENSP00000245407.3:p.Pro491Thr
ENST00000245407.7:c.1471C>A	ENSP00000245407.3:p.Pro491Thr
ENST00000435065.6:c.1543C>A	ENSP00000402760.2:p.Pro515Thr
ENST00000447841.5:c.315C>A
ENST00000448810.5:c.733C>A
ENST00000461013.5:n.8893C>A
ENST00000475308.1:n.2149C>A
NM_001308122.1:c.1543C>A	NP_001295051.1:p.Pro515Thr
NM_003060.3:c.1471C>A	NP_003051.1:p.Pro491Thr
XM_011543590.1:c.853C>A	XP_011541892.1:p.Pro285Thr
XR_948290.1:n.1597C>A
XM_011543590.2:c.853C>A	XP_011541892.1:p.Pro285Thr
XM_017009778.2:c.943C>A	XP_016865267.1:p.Pro315Thr
XR_001742215.1:n.1726C>A
XR_001742216.1:n.1745C>A
XR_427718.2:n.1831C>A
XR_948290.2:n.1597C>A
XR_948291.2:n.1825C>A
NM_003060.4:c.1471C>A MANE Select	NP_003051.1:p.Pro491Thr
NM_001308122.2:c.1543C>A	NP_001295051.1:p.Pro515Thr