Canonical Allele Identifier: CA360809729

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729401T>C (hg19) ; chr5:g.132393709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393709T>C , CM000667.2:g.132393709T>C	GRCh38
NC_000005.9:g.131729401T>C , CM000667.1:g.131729401T>C	GRCh37
NC_000005.8:g.131757300T>C	NCBI36
NG_008982.1:g.29001T>C
NG_008982.2:g.29006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-476T>C	ENSP00000388838.2:n.1292-476T>C
ENST00000435065.7:c.1556T>C	ENSP00000402760.2:p.Met519Thr
ENST00000448810.6:c.*336T>C	ENSP00000401860.2:n.*336T>C
ENST00000685543.1:n.1625T>C
ENST00000686757.1:c.*648T>C	ENSP00000510721.1:n.*648T>C
ENST00000686868.1:n.476T>C
ENST00000687740.1:n.4169T>C
ENST00000688151.1:n.2794T>C
ENST00000689271.1:c.1331T>C	ENSP00000510797.1:p.Met444Thr
ENST00000690900.1:c.*648T>C	ENSP00000510703.1:n.*648T>C
ENST00000692212.1:n.4624T>C
ENST00000692355.1:c.737T>C
ENST00000692413.1:c.1466T>C	ENSP00000509374.1:p.Met489Thr
ENST00000692825.1:c.1552T>C	ENSP00000509447.1:n.1552T>C
ENST00000693308.1:c.1532T>C	ENSP00000509770.1:p.Met511Thr
ENST00000693763.1:n.2644T>C
ENST00000245407.8:c.1484T>C MANE Select	ENSP00000245407.3:p.Met495Thr
ENST00000245407.7:c.1484T>C	ENSP00000245407.3:p.Met495Thr
ENST00000435065.6:c.1556T>C	ENSP00000402760.2:p.Met519Thr
ENST00000447841.5:c.328T>C
ENST00000448810.5:c.746T>C
ENST00000461013.5:n.8906T>C
ENST00000475308.1:n.2162T>C
NM_001308122.1:c.1556T>C	NP_001295051.1:p.Met519Thr
NM_003060.3:c.1484T>C	NP_003051.1:p.Met495Thr
XM_011543590.1:c.866T>C	XP_011541892.1:p.Met289Thr
XR_948290.1:n.1610T>C
XM_011543590.2:c.866T>C	XP_011541892.1:p.Met289Thr
XM_017009778.2:c.956T>C	XP_016865267.1:p.Met319Thr
XR_001742215.1:n.1739T>C
XR_001742216.1:n.1758T>C
XR_427718.2:n.1844T>C
XR_948290.2:n.1610T>C
XR_948291.2:n.1838T>C
NM_003060.4:c.1484T>C MANE Select	NP_003051.1:p.Met495Thr
NM_001308122.2:c.1556T>C	NP_001295051.1:p.Met519Thr