Canonical Allele Identifier: CA360809905

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729455T>C (hg19) ; chr5:g.132393763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393763T>C , CM000667.2:g.132393763T>C	GRCh38
NC_000005.9:g.131729455T>C , CM000667.1:g.131729455T>C	GRCh37
NC_000005.8:g.131757354T>C	NCBI36
NG_008982.1:g.29055T>C
NG_008982.2:g.29060T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-422T>C	ENSP00000388838.2:n.1292-422T>C
ENST00000435065.7:c.1610T>C	ENSP00000402760.2:p.Phe537Ser
ENST00000448810.6:c.*390T>C	ENSP00000401860.2:n.*390T>C
ENST00000685543.1:n.1679T>C
ENST00000686757.1:c.*702T>C	ENSP00000510721.1:n.*702T>C
ENST00000686868.1:n.530T>C
ENST00000687740.1:n.4223T>C
ENST00000688151.1:n.2848T>C
ENST00000689271.1:c.1385T>C	ENSP00000510797.1:p.Phe462Ser
ENST00000690900.1:c.*702T>C	ENSP00000510703.1:n.*702T>C
ENST00000692212.1:n.4678T>C
ENST00000692355.1:c.791T>C
ENST00000692413.1:c.1520T>C	ENSP00000509374.1:p.Phe507Ser
ENST00000692825.1:c.1606T>C	ENSP00000509447.1:n.1606T>C
ENST00000693308.1:c.1586T>C	ENSP00000509770.1:p.Phe529Ser
ENST00000693763.1:n.2698T>C
ENST00000245407.8:c.1538T>C MANE Select	ENSP00000245407.3:p.Phe513Ser
ENST00000245407.7:c.1538T>C	ENSP00000245407.3:p.Phe513Ser
ENST00000435065.6:c.1610T>C	ENSP00000402760.2:p.Phe537Ser
ENST00000447841.5:c.382T>C
ENST00000448810.5:c.800T>C
ENST00000461013.5:n.8960T>C
ENST00000475308.1:n.2216T>C
NM_001308122.1:c.1610T>C	NP_001295051.1:p.Phe537Ser
NM_003060.3:c.1538T>C	NP_003051.1:p.Phe513Ser
XM_011543590.1:c.920T>C	XP_011541892.1:p.Phe307Ser
XR_948290.1:n.1664T>C
XM_011543590.2:c.920T>C	XP_011541892.1:p.Phe307Ser
XM_017009778.2:c.1010T>C	XP_016865267.1:p.Phe337Ser
XR_001742215.1:n.1793T>C
XR_001742216.1:n.1812T>C
XR_427718.2:n.1898T>C
XR_948290.2:n.1664T>C
XR_948291.2:n.1892T>C
NM_003060.4:c.1538T>C MANE Select	NP_003051.1:p.Phe513Ser
NM_001308122.2:c.1610T>C	NP_001295051.1:p.Phe537Ser