Canonical Allele Identifier: CA360805529

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132387038-T-C
• MyVariant Identifiers: chr5:g.131722730T>C (hg19) ; chr5:g.132387038T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387038T>C , CM000667.2:g.132387038T>C	GRCh38
NC_000005.9:g.131722730T>C , CM000667.1:g.131722730T>C	GRCh37
NC_000005.8:g.131750629T>C	NCBI36
NG_008982.1:g.22330T>C
NG_008982.2:g.22335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.679T>C	ENSP00000388838.2:p.Ser227Pro
ENST00000435065.7:c.910T>C	ENSP00000402760.2:p.Ser304Pro
ENST00000448810.6:c.838T>C	ENSP00000401860.2:p.Ser280Pro
ENST00000686757.1:c.*2T>C	ENSP00000510721.1:n.*2T>C
ENST00000687740.1:n.3523T>C
ENST00000688151.1:n.2148T>C
ENST00000689271.1:c.685T>C	ENSP00000510797.1:p.Ser229Pro
ENST00000690900.1:c.*2T>C	ENSP00000510703.1:n.*2T>C
ENST00000692212.1:n.782T>C
ENST00000692355.1:c.205-1883T>C
ENST00000692413.1:c.844-24T>C	ENSP00000509374.1:n.844-24T>C
ENST00000692825.1:c.906T>C	ENSP00000509447.1:n.906T>C
ENST00000693308.1:c.886T>C	ENSP00000509770.1:p.Ser296Pro
ENST00000693763.1:n.1998T>C
ENST00000245407.8:c.838T>C MANE Select	ENSP00000245407.3:p.Ser280Pro
ENST00000245407.7:c.838T>C	ENSP00000245407.3:p.Ser280Pro
ENST00000415928.5:c.607T>C	ENSP00000388838.1:p.Ser203Pro
ENST00000435065.6:c.910T>C	ENSP00000402760.2:p.Ser304Pro
ENST00000437841.6:c.*153T>C	ENSP00000400553.1:n.*153T>C
ENST00000448810.5:c.186T>C
ENST00000461013.5:n.8260T>C
NM_001308122.1:c.910T>C	NP_001295051.1:p.Ser304Pro
NM_003060.3:c.838T>C	NP_003051.1:p.Ser280Pro
XM_011543590.1:c.220T>C	XP_011541892.1:p.Ser74Pro
XR_427718.1:n.1198T>C
XR_948290.1:n.1179T>C
XR_948291.1:n.1192T>C
XM_011543590.2:c.220T>C	XP_011541892.1:p.Ser74Pro
XM_017009778.2:c.310T>C	XP_016865267.1:p.Ser104Pro
XR_001742215.1:n.1179T>C
XR_001742216.1:n.1198T>C
XR_427718.2:n.1198T>C
XR_948290.2:n.1179T>C
XR_948291.2:n.1192T>C
NM_003060.4:c.838T>C MANE Select	NP_003051.1:p.Ser280Pro
NM_001308122.2:c.910T>C	NP_001295051.1:p.Ser304Pro