Canonical Allele Identifier: CA360807528

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726433G>C (hg19) ; chr5:g.132390741G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390741G>C , CM000667.2:g.132390741G>C	GRCh38
NC_000005.9:g.131726433G>C , CM000667.1:g.131726433G>C	GRCh37
NC_000005.8:g.131754332G>C	NCBI36
NG_008982.1:g.26033G>C
NG_008982.2:g.26038G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.945G>C	ENSP00000388838.2:p.Leu315Phe
ENST00000435065.7:c.1176G>C	ENSP00000402760.2:p.Leu392Phe
ENST00000448810.6:c.1053-35G>C	ENSP00000401860.2:n.1053-35G>C
ENST00000685543.1:n.1245G>C
ENST00000686757.1:c.*268G>C	ENSP00000510721.1:n.*268G>C
ENST00000687740.1:n.3789G>C
ENST00000688151.1:n.2414G>C
ENST00000689271.1:c.951G>C	ENSP00000510797.1:p.Leu317Phe
ENST00000690900.1:c.*268G>C	ENSP00000510703.1:n.*268G>C
ENST00000692212.1:n.2716G>C
ENST00000692355.1:c.357G>C
ENST00000692413.1:c.1086G>C	ENSP00000509374.1:p.Leu362Phe
ENST00000692825.1:c.1172G>C	ENSP00000509447.1:n.1172G>C
ENST00000693308.1:c.1152G>C	ENSP00000509770.1:p.Leu384Phe
ENST00000693763.1:n.2264G>C
ENST00000245407.8:c.1104G>C MANE Select	ENSP00000245407.3:p.Leu368Phe
ENST00000245407.7:c.1104G>C	ENSP00000245407.3:p.Leu368Phe
ENST00000435065.6:c.1176G>C	ENSP00000402760.2:p.Leu392Phe
ENST00000447841.5:c.112-1692G>C
ENST00000448810.5:c.401-35G>C
ENST00000461013.5:n.8526G>C
ENST00000475308.1:n.1782G>C
ENST00000479605.5:n.207G>C
NM_001308122.1:c.1176G>C	NP_001295051.1:p.Leu392Phe
NM_003060.3:c.1104G>C	NP_003051.1:p.Leu368Phe
XM_011543590.1:c.486G>C	XP_011541892.1:p.Leu162Phe
XR_427718.1:n.1464G>C
XR_948290.1:n.1394-1692G>C
XR_948291.1:n.1458G>C
XM_011543590.2:c.486G>C	XP_011541892.1:p.Leu162Phe
XM_017009778.2:c.576G>C	XP_016865267.1:p.Leu192Phe
XR_001742215.1:n.1394-35G>C
XR_001742216.1:n.1413-35G>C
XR_427718.2:n.1464G>C
XR_948290.2:n.1394-1692G>C
XR_948291.2:n.1458G>C
NM_003060.4:c.1104G>C MANE Select	NP_003051.1:p.Leu368Phe
NM_001308122.2:c.1176G>C	NP_001295051.1:p.Leu392Phe