Canonical Allele Identifier: CA360805149

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721122T>C (hg19) ; chr5:g.132385430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385430T>C , CM000667.2:g.132385430T>C	GRCh38
NC_000005.9:g.131721122T>C , CM000667.1:g.131721122T>C	GRCh37
NC_000005.8:g.131749021T>C	NCBI36
NG_008982.1:g.20722T>C
NG_008982.2:g.20727T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1116T>C	ENSP00000388838.2:n.665+1116T>C
ENST00000435065.7:c.827T>C	ENSP00000402760.2:p.Phe276Ser
ENST00000448810.6:c.755T>C	ENSP00000401860.2:p.Phe252Ser
ENST00000686757.1:c.774T>C	ENSP00000510721.1:p.Leu258=
ENST00000687740.1:n.1915T>C
ENST00000688151.1:n.1947T>C
ENST00000689271.1:c.671+1110T>C	ENSP00000510797.1:n.671+1110T>C
ENST00000690900.1:c.726T>C	ENSP00000510703.1:p.Leu242=
ENST00000692212.1:n.581T>C
ENST00000692355.1:c.204+1129T>C
ENST00000692413.1:c.774T>C	ENSP00000509374.1:p.Leu258=
ENST00000692825.1:c.823T>C	ENSP00000509447.1:n.823T>C
ENST00000693308.1:c.768T>C	ENSP00000509770.1:p.Leu256=
ENST00000693763.1:n.1915T>C
ENST00000245407.8:c.755T>C MANE Select	ENSP00000245407.3:p.Phe252Ser
ENST00000245407.7:c.755T>C	ENSP00000245407.3:p.Phe252Ser
ENST00000415928.5:c.524T>C	ENSP00000388838.1:p.Phe175Ser
ENST00000435065.6:c.827T>C	ENSP00000402760.2:p.Phe276Ser
ENST00000437841.6:c.*70T>C	ENSP00000400553.1:n.*70T>C
ENST00000448810.5:c.103T>C
ENST00000461013.5:n.8177T>C
NM_001308122.1:c.827T>C	NP_001295051.1:p.Phe276Ser
NM_003060.3:c.755T>C	NP_003051.1:p.Phe252Ser
XM_011543590.1:c.137T>C	XP_011541892.1:p.Phe46Ser
XR_427718.1:n.1115T>C
XR_948290.1:n.1096T>C
XR_948291.1:n.1109T>C
XM_011543590.2:c.137T>C	XP_011541892.1:p.Phe46Ser
XM_017009778.2:c.227T>C	XP_016865267.1:p.Phe76Ser
XR_001742215.1:n.1096T>C
XR_001742216.1:n.1115T>C
XR_427718.2:n.1115T>C
XR_948290.2:n.1096T>C
XR_948291.2:n.1109T>C
NM_003060.4:c.755T>C MANE Select	NP_003051.1:p.Phe252Ser
NM_001308122.2:c.827T>C	NP_001295051.1:p.Phe276Ser