Canonical Allele Identifier: CA360807604

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726467G>C (hg19) ; chr5:g.132390775G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390775G>C , CM000667.2:g.132390775G>C	GRCh38
NC_000005.9:g.131726467G>C , CM000667.1:g.131726467G>C	GRCh37
NC_000005.8:g.131754366G>C	NCBI36
NG_008982.1:g.26067G>C
NG_008982.2:g.26072G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.979G>C	ENSP00000388838.2:p.Ala327Pro
ENST00000435065.7:c.1210G>C	ENSP00000402760.2:p.Ala404Pro
ENST00000448810.6:c.1053-1G>C	ENSP00000401860.2:n.1053-1G>C
ENST00000685543.1:n.1279G>C
ENST00000686757.1:c.*302G>C	ENSP00000510721.1:n.*302G>C
ENST00000687740.1:n.3823G>C
ENST00000688151.1:n.2448G>C
ENST00000689271.1:c.985G>C	ENSP00000510797.1:p.Ala329Pro
ENST00000690900.1:c.*302G>C	ENSP00000510703.1:n.*302G>C
ENST00000692212.1:n.2750G>C
ENST00000692355.1:c.391G>C
ENST00000692413.1:c.1120G>C	ENSP00000509374.1:p.Ala374Pro
ENST00000692825.1:c.1206G>C	ENSP00000509447.1:n.1206G>C
ENST00000693308.1:c.1186G>C	ENSP00000509770.1:p.Ala396Pro
ENST00000693763.1:n.2298G>C
ENST00000245407.8:c.1138G>C MANE Select	ENSP00000245407.3:p.Ala380Pro
ENST00000245407.7:c.1138G>C	ENSP00000245407.3:p.Ala380Pro
ENST00000435065.6:c.1210G>C	ENSP00000402760.2:p.Ala404Pro
ENST00000447841.5:c.112-1658G>C
ENST00000448810.5:c.401-1G>C
ENST00000461013.5:n.8560G>C
ENST00000475308.1:n.1816G>C
ENST00000479605.5:n.241G>C
NM_001308122.1:c.1210G>C	NP_001295051.1:p.Ala404Pro
NM_003060.3:c.1138G>C	NP_003051.1:p.Ala380Pro
XM_011543590.1:c.520G>C	XP_011541892.1:p.Ala174Pro
XR_427718.1:n.1498G>C
XR_948290.1:n.1394-1658G>C
XR_948291.1:n.1492G>C
XM_011543590.2:c.520G>C	XP_011541892.1:p.Ala174Pro
XM_017009778.2:c.610G>C	XP_016865267.1:p.Ala204Pro
XR_001742215.1:n.1394-1G>C
XR_001742216.1:n.1413-1G>C
XR_427718.2:n.1498G>C
XR_948290.2:n.1394-1658G>C
XR_948291.2:n.1492G>C
NM_003060.4:c.1138G>C MANE Select	NP_003051.1:p.Ala380Pro
NM_001308122.2:c.1210G>C	NP_001295051.1:p.Ala404Pro