Canonical Allele Identifier: CA360807754

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726539G>C (hg19) ; chr5:g.132390847G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390847G>C , CM000667.2:g.132390847G>C	GRCh38
NC_000005.9:g.131726539G>C , CM000667.1:g.131726539G>C	GRCh37
NC_000005.8:g.131754438G>C	NCBI36
NG_008982.1:g.26139G>C
NG_008982.2:g.26144G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1051G>C	ENSP00000388838.2:p.Ala351Pro
ENST00000435065.7:c.1282G>C	ENSP00000402760.2:p.Ala428Pro
ENST00000448810.6:c.*62G>C	ENSP00000401860.2:n.*62G>C
ENST00000685543.1:n.1351G>C
ENST00000686757.1:c.*374G>C	ENSP00000510721.1:n.*374G>C
ENST00000687740.1:n.3895G>C
ENST00000688151.1:n.2520G>C
ENST00000689271.1:c.1057G>C	ENSP00000510797.1:p.Ala353Pro
ENST00000690900.1:c.*374G>C	ENSP00000510703.1:n.*374G>C
ENST00000692212.1:n.2822G>C
ENST00000692355.1:c.463G>C
ENST00000692413.1:c.1192G>C	ENSP00000509374.1:p.Ala398Pro
ENST00000692825.1:c.1278G>C	ENSP00000509447.1:n.1278G>C
ENST00000693308.1:c.1258G>C	ENSP00000509770.1:p.Ala420Pro
ENST00000693763.1:n.2370G>C
ENST00000245407.8:c.1210G>C MANE Select	ENSP00000245407.3:p.Ala404Pro
ENST00000245407.7:c.1210G>C	ENSP00000245407.3:p.Ala404Pro
ENST00000435065.6:c.1282G>C	ENSP00000402760.2:p.Ala428Pro
ENST00000447841.5:c.112-1586G>C
ENST00000448810.5:c.472G>C
ENST00000461013.5:n.8632G>C
ENST00000475308.1:n.1888G>C
ENST00000479605.5:n.313G>C
NM_001308122.1:c.1282G>C	NP_001295051.1:p.Ala428Pro
NM_003060.3:c.1210G>C	NP_003051.1:p.Ala404Pro
XM_011543590.1:c.592G>C	XP_011541892.1:p.Ala198Pro
XR_427718.1:n.1570G>C
XR_948290.1:n.1394-1586G>C
XR_948291.1:n.1564G>C
XM_011543590.2:c.592G>C	XP_011541892.1:p.Ala198Pro
XM_017009778.2:c.682G>C	XP_016865267.1:p.Ala228Pro
XR_001742215.1:n.1465G>C
XR_001742216.1:n.1484G>C
XR_427718.2:n.1570G>C
XR_948290.2:n.1394-1586G>C
XR_948291.2:n.1564G>C
NM_003060.4:c.1210G>C MANE Select	NP_003051.1:p.Ala404Pro
NM_001308122.2:c.1282G>C	NP_001295051.1:p.Ala428Pro