Canonical Allele Identifier: CA360807866

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726596G>C (hg19) ; chr5:g.132390904G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390904G>C , CM000667.2:g.132390904G>C	GRCh38
NC_000005.9:g.131726596G>C , CM000667.1:g.131726596G>C	GRCh37
NC_000005.8:g.131754495G>C	NCBI36
NG_008982.1:g.26196G>C
NG_008982.2:g.26201G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1108G>C	ENSP00000388838.2:p.Asp370His
ENST00000435065.7:c.1339G>C	ENSP00000402760.2:p.Asp447His
ENST00000448810.6:c.*119G>C	ENSP00000401860.2:n.*119G>C
ENST00000685543.1:n.1408G>C
ENST00000686757.1:c.*431G>C	ENSP00000510721.1:n.*431G>C
ENST00000687740.1:n.3952G>C
ENST00000688151.1:n.2577G>C
ENST00000689271.1:c.1114G>C	ENSP00000510797.1:p.Asp372His
ENST00000690900.1:c.*431G>C	ENSP00000510703.1:n.*431G>C
ENST00000692212.1:n.2879G>C
ENST00000692355.1:c.520G>C
ENST00000692413.1:c.1249G>C	ENSP00000509374.1:p.Asp417His
ENST00000692825.1:c.1335G>C	ENSP00000509447.1:n.1335G>C
ENST00000693308.1:c.1315G>C	ENSP00000509770.1:p.Asp439His
ENST00000693763.1:n.2427G>C
ENST00000245407.8:c.1267G>C MANE Select	ENSP00000245407.3:p.Asp423His
ENST00000245407.7:c.1267G>C	ENSP00000245407.3:p.Asp423His
ENST00000435065.6:c.1339G>C	ENSP00000402760.2:p.Asp447His
ENST00000447841.5:c.112-1529G>C
ENST00000448810.5:c.529G>C
ENST00000461013.5:n.8689G>C
ENST00000475308.1:n.1945G>C
ENST00000479605.5:n.370G>C
NM_001308122.1:c.1339G>C	NP_001295051.1:p.Asp447His
NM_003060.3:c.1267G>C	NP_003051.1:p.Asp423His
XM_011543590.1:c.649G>C	XP_011541892.1:p.Asp217His
XR_427718.1:n.1627G>C
XR_948290.1:n.1394-1529G>C
XR_948291.1:n.1621G>C
XM_011543590.2:c.649G>C	XP_011541892.1:p.Asp217His
XM_017009778.2:c.739G>C	XP_016865267.1:p.Asp247His
XR_001742215.1:n.1522G>C
XR_001742216.1:n.1541G>C
XR_427718.2:n.1627G>C
XR_948290.2:n.1394-1529G>C
XR_948291.2:n.1621G>C
NM_003060.4:c.1267G>C MANE Select	NP_003051.1:p.Asp423His
NM_001308122.2:c.1339G>C	NP_001295051.1:p.Asp447His