Canonical Allele Identifier: CA3404200

Gene: SLC22A5

Linked Data

• dbSNP Id: rs760636939
• ExAC: 5:131729488 T / C
• gnomAD v2: 5-131729488-T-C
• gnomAD v4: 5-132393796-T-C
• MyVariant Identifiers: chr5:g.131729488T>C (hg19) ; chr5:g.132393796T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393796T>C , CM000667.2:g.132393796T>C	GRCh38
NC_000005.9:g.131729488T>C , CM000667.1:g.131729488T>C	GRCh37
NC_000005.8:g.131757387T>C	NCBI36
NG_008982.1:g.29088T>C
NG_008982.2:g.29093T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-389T>C	ENSP00000388838.2:n.1292-389T>C
ENST00000435065.7:c.1643T>C	ENSP00000402760.2:p.Met548Thr
ENST00000448810.6:c.*423T>C	ENSP00000401860.2:n.*423T>C
ENST00000685543.1:n.1712T>C
ENST00000686757.1:c.*735T>C	ENSP00000510721.1:n.*735T>C
ENST00000686868.1:n.563T>C
ENST00000687740.1:n.4256T>C
ENST00000688151.1:n.2881T>C
ENST00000689271.1:c.1418T>C	ENSP00000510797.1:p.Met473Thr
ENST00000690900.1:c.*735T>C	ENSP00000510703.1:n.*735T>C
ENST00000692212.1:n.4711T>C
ENST00000692355.1:c.824T>C
ENST00000692413.1:c.1553T>C	ENSP00000509374.1:p.Met518Thr
ENST00000692825.1:c.1639T>C	ENSP00000509447.1:n.1639T>C
ENST00000693308.1:c.1619T>C	ENSP00000509770.1:p.Met540Thr
ENST00000693763.1:n.2731T>C
ENST00000245407.8:c.1571T>C MANE Select	ENSP00000245407.3:p.Met524Thr
ENST00000245407.7:c.1571T>C	ENSP00000245407.3:p.Met524Thr
ENST00000435065.6:c.1643T>C	ENSP00000402760.2:p.Met548Thr
ENST00000447841.5:c.415T>C
ENST00000448810.5:c.833T>C
ENST00000461013.5:n.8993T>C
ENST00000475308.1:n.2249T>C
NM_001308122.1:c.1643T>C	NP_001295051.1:p.Met548Thr
NM_003060.3:c.1571T>C	NP_003051.1:p.Met524Thr
XM_011543590.1:c.953T>C	XP_011541892.1:p.Met318Thr
XR_948290.1:n.1697T>C
XM_011543590.2:c.953T>C	XP_011541892.1:p.Met318Thr
XM_017009778.2:c.1043T>C	XP_016865267.1:p.Met348Thr
XR_001742215.1:n.1826T>C
XR_001742216.1:n.1845T>C
XR_427718.2:n.1931T>C
XR_948290.2:n.1697T>C
XR_948291.2:n.1925T>C
NM_003060.4:c.1571T>C MANE Select	NP_003051.1:p.Met524Thr
NM_001308122.2:c.1643T>C	NP_001295051.1:p.Met548Thr