Canonical Allele Identifier: CA360809621

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729382T>C (hg19) ; chr5:g.132393690T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393690T>C , CM000667.2:g.132393690T>C	GRCh38
NC_000005.9:g.131729382T>C , CM000667.1:g.131729382T>C	GRCh37
NC_000005.8:g.131757281T>C	NCBI36
NG_008982.1:g.28982T>C
NG_008982.2:g.28987T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1292-495T>C	ENSP00000388838.2:n.1292-495T>C
ENST00000435065.7:c.1537T>C	ENSP00000402760.2:p.Phe513Leu
ENST00000448810.6:c.*317T>C	ENSP00000401860.2:n.*317T>C
ENST00000685543.1:n.1606T>C
ENST00000686757.1:c.*629T>C	ENSP00000510721.1:n.*629T>C
ENST00000686868.1:n.457T>C
ENST00000687740.1:n.4150T>C
ENST00000688151.1:n.2775T>C
ENST00000689271.1:c.1312T>C	ENSP00000510797.1:p.Phe438Leu
ENST00000690900.1:c.*629T>C	ENSP00000510703.1:n.*629T>C
ENST00000692212.1:n.4605T>C
ENST00000692355.1:c.718T>C
ENST00000692413.1:c.1447T>C	ENSP00000509374.1:p.Phe483Leu
ENST00000692825.1:c.1533T>C	ENSP00000509447.1:n.1533T>C
ENST00000693308.1:c.1513T>C	ENSP00000509770.1:p.Phe505Leu
ENST00000693763.1:n.2625T>C
ENST00000245407.8:c.1465T>C MANE Select	ENSP00000245407.3:p.Phe489Leu
ENST00000245407.7:c.1465T>C	ENSP00000245407.3:p.Phe489Leu
ENST00000435065.6:c.1537T>C	ENSP00000402760.2:p.Phe513Leu
ENST00000447841.5:c.309T>C
ENST00000448810.5:c.727T>C
ENST00000461013.5:n.8887T>C
ENST00000475308.1:n.2143T>C
NM_001308122.1:c.1537T>C	NP_001295051.1:p.Phe513Leu
NM_003060.3:c.1465T>C	NP_003051.1:p.Phe489Leu
XM_011543590.1:c.847T>C	XP_011541892.1:p.Phe283Leu
XR_948290.1:n.1591T>C
XM_011543590.2:c.847T>C	XP_011541892.1:p.Phe283Leu
XM_017009778.2:c.937T>C	XP_016865267.1:p.Phe313Leu
XR_001742215.1:n.1720T>C
XR_001742216.1:n.1739T>C
XR_427718.2:n.1825T>C
XR_948290.2:n.1591T>C
XR_948291.2:n.1819T>C
NM_003060.4:c.1465T>C MANE Select	NP_003051.1:p.Phe489Leu
NM_001308122.2:c.1537T>C	NP_001295051.1:p.Phe513Leu