Canonical Allele Identifier: CA360807713

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726519T>C (hg19) ; chr5:g.132390827T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390827T>C , CM000667.2:g.132390827T>C	GRCh38
NC_000005.9:g.131726519T>C , CM000667.1:g.131726519T>C	GRCh37
NC_000005.8:g.131754418T>C	NCBI36
NG_008982.1:g.26119T>C
NG_008982.2:g.26124T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1031T>C	ENSP00000388838.2:p.Leu344Ser
ENST00000435065.7:c.1262T>C	ENSP00000402760.2:p.Leu421Ser
ENST00000448810.6:c.*42T>C	ENSP00000401860.2:n.*42T>C
ENST00000685543.1:n.1331T>C
ENST00000686757.1:c.*354T>C	ENSP00000510721.1:n.*354T>C
ENST00000687740.1:n.3875T>C
ENST00000688151.1:n.2500T>C
ENST00000689271.1:c.1037T>C	ENSP00000510797.1:p.Leu346Ser
ENST00000690900.1:c.*354T>C	ENSP00000510703.1:n.*354T>C
ENST00000692212.1:n.2802T>C
ENST00000692355.1:c.443T>C
ENST00000692413.1:c.1172T>C	ENSP00000509374.1:p.Leu391Ser
ENST00000692825.1:c.1258T>C	ENSP00000509447.1:n.1258T>C
ENST00000693308.1:c.1238T>C	ENSP00000509770.1:p.Leu413Ser
ENST00000693763.1:n.2350T>C
ENST00000245407.8:c.1190T>C MANE Select	ENSP00000245407.3:p.Leu397Ser
ENST00000245407.7:c.1190T>C	ENSP00000245407.3:p.Leu397Ser
ENST00000435065.6:c.1262T>C	ENSP00000402760.2:p.Leu421Ser
ENST00000447841.5:c.112-1606T>C
ENST00000448810.5:c.452T>C
ENST00000461013.5:n.8612T>C
ENST00000475308.1:n.1868T>C
ENST00000479605.5:n.293T>C
NM_001308122.1:c.1262T>C	NP_001295051.1:p.Leu421Ser
NM_003060.3:c.1190T>C	NP_003051.1:p.Leu397Ser
XM_011543590.1:c.572T>C	XP_011541892.1:p.Leu191Ser
XR_427718.1:n.1550T>C
XR_948290.1:n.1394-1606T>C
XR_948291.1:n.1544T>C
XM_011543590.2:c.572T>C	XP_011541892.1:p.Leu191Ser
XM_017009778.2:c.662T>C	XP_016865267.1:p.Leu221Ser
XR_001742215.1:n.1445T>C
XR_001742216.1:n.1464T>C
XR_427718.2:n.1550T>C
XR_948290.2:n.1394-1606T>C
XR_948291.2:n.1544T>C
NM_003060.4:c.1190T>C MANE Select	NP_003051.1:p.Leu397Ser
NM_001308122.2:c.1262T>C	NP_001295051.1:p.Leu421Ser