Canonical Allele Identifier: CA360807471

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726408G>C (hg19) ; chr5:g.132390716G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390716G>C , CM000667.2:g.132390716G>C	GRCh38
NC_000005.9:g.131726408G>C , CM000667.1:g.131726408G>C	GRCh37
NC_000005.8:g.131754307G>C	NCBI36
NG_008982.1:g.26008G>C
NG_008982.2:g.26013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.920G>C	ENSP00000388838.2:p.Gly307Ala
ENST00000435065.7:c.1151G>C	ENSP00000402760.2:p.Gly384Ala
ENST00000448810.6:c.1053-60G>C	ENSP00000401860.2:n.1053-60G>C
ENST00000685543.1:n.1220G>C
ENST00000686757.1:c.*243G>C	ENSP00000510721.1:n.*243G>C
ENST00000687740.1:n.3764G>C
ENST00000688151.1:n.2389G>C
ENST00000689271.1:c.926G>C	ENSP00000510797.1:p.Gly309Ala
ENST00000690900.1:c.*243G>C	ENSP00000510703.1:n.*243G>C
ENST00000692212.1:n.2691G>C
ENST00000692355.1:c.332G>C
ENST00000692413.1:c.1061G>C	ENSP00000509374.1:p.Gly354Ala
ENST00000692825.1:c.1147G>C	ENSP00000509447.1:n.1147G>C
ENST00000693308.1:c.1127G>C	ENSP00000509770.1:p.Gly376Ala
ENST00000693763.1:n.2239G>C
ENST00000245407.8:c.1079G>C MANE Select	ENSP00000245407.3:p.Gly360Ala
ENST00000245407.7:c.1079G>C	ENSP00000245407.3:p.Gly360Ala
ENST00000435065.6:c.1151G>C	ENSP00000402760.2:p.Gly384Ala
ENST00000447841.5:c.111+1695G>C
ENST00000448810.5:c.401-60G>C
ENST00000461013.5:n.8501G>C
ENST00000475308.1:n.1757G>C
ENST00000479605.5:n.182G>C
NM_001308122.1:c.1151G>C	NP_001295051.1:p.Gly384Ala
NM_003060.3:c.1079G>C	NP_003051.1:p.Gly360Ala
XM_011543590.1:c.461G>C	XP_011541892.1:p.Gly154Ala
XR_427718.1:n.1439G>C
XR_948290.1:n.1393+1695G>C
XR_948291.1:n.1433G>C
XM_011543590.2:c.461G>C	XP_011541892.1:p.Gly154Ala
XM_017009778.2:c.551G>C	XP_016865267.1:p.Gly184Ala
XR_001742215.1:n.1394-60G>C
XR_001742216.1:n.1413-60G>C
XR_427718.2:n.1439G>C
XR_948290.2:n.1393+1695G>C
XR_948291.2:n.1433G>C
NM_003060.4:c.1079G>C MANE Select	NP_003051.1:p.Gly360Ala
NM_001308122.2:c.1151G>C	NP_001295051.1:p.Gly384Ala