Canonical Allele Identifier: CA360807731

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726530T>C (hg19) ; chr5:g.132390838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390838T>C , CM000667.2:g.132390838T>C	GRCh38
NC_000005.9:g.131726530T>C , CM000667.1:g.131726530T>C	GRCh37
NC_000005.8:g.131754429T>C	NCBI36
NG_008982.1:g.26130T>C
NG_008982.2:g.26135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1042T>C	ENSP00000388838.2:p.Tyr348His
ENST00000435065.7:c.1273T>C	ENSP00000402760.2:p.Tyr425His
ENST00000448810.6:c.*53T>C	ENSP00000401860.2:n.*53T>C
ENST00000685543.1:n.1342T>C
ENST00000686757.1:c.*365T>C	ENSP00000510721.1:n.*365T>C
ENST00000687740.1:n.3886T>C
ENST00000688151.1:n.2511T>C
ENST00000689271.1:c.1048T>C	ENSP00000510797.1:p.Tyr350His
ENST00000690900.1:c.*365T>C	ENSP00000510703.1:n.*365T>C
ENST00000692212.1:n.2813T>C
ENST00000692355.1:c.454T>C
ENST00000692413.1:c.1183T>C	ENSP00000509374.1:p.Tyr395His
ENST00000692825.1:c.1269T>C	ENSP00000509447.1:n.1269T>C
ENST00000693308.1:c.1249T>C	ENSP00000509770.1:p.Tyr417His
ENST00000693763.1:n.2361T>C
ENST00000245407.8:c.1201T>C MANE Select	ENSP00000245407.3:p.Tyr401His
ENST00000245407.7:c.1201T>C	ENSP00000245407.3:p.Tyr401His
ENST00000435065.6:c.1273T>C	ENSP00000402760.2:p.Tyr425His
ENST00000447841.5:c.112-1595T>C
ENST00000448810.5:c.463T>C
ENST00000461013.5:n.8623T>C
ENST00000475308.1:n.1879T>C
ENST00000479605.5:n.304T>C
NM_001308122.1:c.1273T>C	NP_001295051.1:p.Tyr425His
NM_003060.3:c.1201T>C	NP_003051.1:p.Tyr401His
XM_011543590.1:c.583T>C	XP_011541892.1:p.Tyr195His
XR_427718.1:n.1561T>C
XR_948290.1:n.1394-1595T>C
XR_948291.1:n.1555T>C
XM_011543590.2:c.583T>C	XP_011541892.1:p.Tyr195His
XM_017009778.2:c.673T>C	XP_016865267.1:p.Tyr225His
XR_001742215.1:n.1456T>C
XR_001742216.1:n.1475T>C
XR_427718.2:n.1561T>C
XR_948290.2:n.1394-1595T>C
XR_948291.2:n.1555T>C
NM_003060.4:c.1201T>C MANE Select	NP_003051.1:p.Tyr401His
NM_001308122.2:c.1273T>C	NP_001295051.1:p.Tyr425His