Canonical Allele Identifier: CA360802826

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131705994G>C (hg19) ; chr5:g.132370302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370302G>C , CM000667.2:g.132370302G>C	GRCh38
NC_000005.9:g.131705994G>C , CM000667.1:g.131705994G>C	GRCh37
NC_000005.8:g.131733893G>C	NCBI36
NG_008982.1:g.5594G>C
NG_008982.2:g.5599G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.330G>C	ENSP00000388838.2:p.Gln110His
ENST00000435065.7:c.330G>C	ENSP00000402760.2:p.Gln110His
ENST00000448810.6:c.330G>C	ENSP00000401860.2:p.Gln110His
ENST00000686757.1:c.330G>C	ENSP00000510721.1:p.Gln110His
ENST00000687740.1:n.464G>C
ENST00000689271.1:c.330G>C	ENSP00000510797.1:p.Gln110His
ENST00000690900.1:c.330G>C	ENSP00000510703.1:p.Gln110His
ENST00000692413.1:c.330G>C	ENSP00000509374.1:p.Gln110His
ENST00000692825.1:c.330G>C	ENSP00000509447.1:p.Gln110His
ENST00000693308.1:c.330G>C	ENSP00000509770.1:p.Gln110His
ENST00000693763.1:n.464G>C
ENST00000245407.8:c.330G>C MANE Select	ENSP00000245407.3:p.Gln110His
ENST00000245407.7:c.330G>C	ENSP00000245407.3:p.Gln110His
ENST00000415928.5:c.27G>C	ENSP00000388838.1:p.Gln9His
ENST00000435065.6:c.330G>C	ENSP00000402760.2:p.Gln110His
ENST00000437841.6:c.330G>C	ENSP00000400553.1:p.Gln110His
NM_001308122.1:c.330G>C	NP_001295051.1:p.Gln110His
NM_003060.3:c.330G>C	NP_003051.1:p.Gln110His
XR_427718.1:n.599G>C
XR_948290.1:n.599G>C
XR_948291.1:n.599G>C
XM_011543590.2:c.-302G>C	XP_011541892.1:n.-302G>C
XR_001742215.1:n.599G>C
XR_001742216.1:n.599G>C
XR_427718.2:n.599G>C
XR_948290.2:n.599G>C
XR_948291.2:n.599G>C
NM_003060.4:c.330G>C MANE Select	NP_003051.1:p.Gln110His
NM_001308122.2:c.330G>C	NP_001295051.1:p.Gln110His