Canonical Allele Identifier: CA360807832

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726579T>C (hg19) ; chr5:g.132390887T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390887T>C , CM000667.2:g.132390887T>C	GRCh38
NC_000005.9:g.131726579T>C , CM000667.1:g.131726579T>C	GRCh37
NC_000005.8:g.131754478T>C	NCBI36
NG_008982.1:g.26179T>C
NG_008982.2:g.26184T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1091T>C	ENSP00000388838.2:p.Met364Thr
ENST00000435065.7:c.1322T>C	ENSP00000402760.2:p.Met441Thr
ENST00000448810.6:c.*102T>C	ENSP00000401860.2:n.*102T>C
ENST00000685543.1:n.1391T>C
ENST00000686757.1:c.*414T>C	ENSP00000510721.1:n.*414T>C
ENST00000687740.1:n.3935T>C
ENST00000688151.1:n.2560T>C
ENST00000689271.1:c.1097T>C	ENSP00000510797.1:p.Met366Thr
ENST00000690900.1:c.*414T>C	ENSP00000510703.1:n.*414T>C
ENST00000692212.1:n.2862T>C
ENST00000692355.1:c.503T>C
ENST00000692413.1:c.1232T>C	ENSP00000509374.1:p.Met411Thr
ENST00000692825.1:c.1318T>C	ENSP00000509447.1:n.1318T>C
ENST00000693308.1:c.1298T>C	ENSP00000509770.1:p.Met433Thr
ENST00000693763.1:n.2410T>C
ENST00000245407.8:c.1250T>C MANE Select	ENSP00000245407.3:p.Met417Thr
ENST00000245407.7:c.1250T>C	ENSP00000245407.3:p.Met417Thr
ENST00000435065.6:c.1322T>C	ENSP00000402760.2:p.Met441Thr
ENST00000447841.5:c.112-1546T>C
ENST00000448810.5:c.512T>C
ENST00000461013.5:n.8672T>C
ENST00000475308.1:n.1928T>C
ENST00000479605.5:n.353T>C
NM_001308122.1:c.1322T>C	NP_001295051.1:p.Met441Thr
NM_003060.3:c.1250T>C	NP_003051.1:p.Met417Thr
XM_011543590.1:c.632T>C	XP_011541892.1:p.Met211Thr
XR_427718.1:n.1610T>C
XR_948290.1:n.1394-1546T>C
XR_948291.1:n.1604T>C
XM_011543590.2:c.632T>C	XP_011541892.1:p.Met211Thr
XM_017009778.2:c.722T>C	XP_016865267.1:p.Met241Thr
XR_001742215.1:n.1505T>C
XR_001742216.1:n.1524T>C
XR_427718.2:n.1610T>C
XR_948290.2:n.1394-1546T>C
XR_948291.2:n.1604T>C
NM_003060.4:c.1250T>C MANE Select	NP_003051.1:p.Met417Thr
NM_001308122.2:c.1322T>C	NP_001295051.1:p.Met441Thr