Canonical Allele Identifier: CA360805533

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132387041-C-A
• MyVariant Identifiers: chr5:g.131722733C>A (hg19) ; chr5:g.132387041C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387041C>A , CM000667.2:g.132387041C>A	GRCh38
NC_000005.9:g.131722733C>A , CM000667.1:g.131722733C>A	GRCh37
NC_000005.8:g.131750632C>A	NCBI36
NG_008982.1:g.22333C>A
NG_008982.2:g.22338C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.682C>A	ENSP00000388838.2:p.Pro228Thr
ENST00000435065.7:c.913C>A	ENSP00000402760.2:p.Pro305Thr
ENST00000448810.6:c.841C>A	ENSP00000401860.2:p.Pro281Thr
ENST00000686757.1:c.*5C>A	ENSP00000510721.1:n.*5C>A
ENST00000687740.1:n.3526C>A
ENST00000688151.1:n.2151C>A
ENST00000689271.1:c.688C>A	ENSP00000510797.1:p.Pro230Thr
ENST00000690900.1:c.*5C>A	ENSP00000510703.1:n.*5C>A
ENST00000692212.1:n.785C>A
ENST00000692355.1:c.205-1880C>A
ENST00000692413.1:c.844-21C>A	ENSP00000509374.1:n.844-21C>A
ENST00000692825.1:c.909C>A	ENSP00000509447.1:n.909C>A
ENST00000693308.1:c.889C>A	ENSP00000509770.1:p.Pro297Thr
ENST00000693763.1:n.2001C>A
ENST00000245407.8:c.841C>A MANE Select	ENSP00000245407.3:p.Pro281Thr
ENST00000245407.7:c.841C>A	ENSP00000245407.3:p.Pro281Thr
ENST00000415928.5:c.610C>A	ENSP00000388838.1:p.Pro204Thr
ENST00000435065.6:c.913C>A	ENSP00000402760.2:p.Pro305Thr
ENST00000437841.6:c.*156C>A	ENSP00000400553.1:n.*156C>A
ENST00000448810.5:c.189C>A
ENST00000461013.5:n.8263C>A
NM_001308122.1:c.913C>A	NP_001295051.1:p.Pro305Thr
NM_003060.3:c.841C>A	NP_003051.1:p.Pro281Thr
XM_011543590.1:c.223C>A	XP_011541892.1:p.Pro75Thr
XR_427718.1:n.1201C>A
XR_948290.1:n.1182C>A
XR_948291.1:n.1195C>A
XM_011543590.2:c.223C>A	XP_011541892.1:p.Pro75Thr
XM_017009778.2:c.313C>A	XP_016865267.1:p.Pro105Thr
XR_001742215.1:n.1182C>A
XR_001742216.1:n.1201C>A
XR_427718.2:n.1201C>A
XR_948290.2:n.1182C>A
XR_948291.2:n.1195C>A
NM_003060.4:c.841C>A MANE Select	NP_003051.1:p.Pro281Thr
NM_001308122.2:c.913C>A	NP_001295051.1:p.Pro305Thr