Canonical Allele Identifier: CA360809962

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729472G>C (hg19) ; chr5:g.132393780G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393780G>C , CM000667.2:g.132393780G>C	GRCh38
NC_000005.9:g.131729472G>C , CM000667.1:g.131729472G>C	GRCh37
NC_000005.8:g.131757371G>C	NCBI36
NG_008982.1:g.29072G>C
NG_008982.2:g.29077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-405G>C	ENSP00000388838.2:n.1292-405G>C
ENST00000435065.7:c.1627G>C	ENSP00000402760.2:p.Asp543His
ENST00000448810.6:c.*407G>C	ENSP00000401860.2:n.*407G>C
ENST00000685543.1:n.1696G>C
ENST00000686757.1:c.*719G>C	ENSP00000510721.1:n.*719G>C
ENST00000686868.1:n.547G>C
ENST00000687740.1:n.4240G>C
ENST00000688151.1:n.2865G>C
ENST00000689271.1:c.1402G>C	ENSP00000510797.1:p.Asp468His
ENST00000690900.1:c.*719G>C	ENSP00000510703.1:n.*719G>C
ENST00000692212.1:n.4695G>C
ENST00000692355.1:c.808G>C
ENST00000692413.1:c.1537G>C	ENSP00000509374.1:p.Asp513His
ENST00000692825.1:c.1623G>C	ENSP00000509447.1:n.1623G>C
ENST00000693308.1:c.1603G>C	ENSP00000509770.1:p.Asp535His
ENST00000693763.1:n.2715G>C
ENST00000245407.8:c.1555G>C MANE Select	ENSP00000245407.3:p.Asp519His
ENST00000245407.7:c.1555G>C	ENSP00000245407.3:p.Asp519His
ENST00000435065.6:c.1627G>C	ENSP00000402760.2:p.Asp543His
ENST00000447841.5:c.399G>C
ENST00000448810.5:c.817G>C
ENST00000461013.5:n.8977G>C
ENST00000475308.1:n.2233G>C
NM_001308122.1:c.1627G>C	NP_001295051.1:p.Asp543His
NM_003060.3:c.1555G>C	NP_003051.1:p.Asp519His
XM_011543590.1:c.937G>C	XP_011541892.1:p.Asp313His
XR_948290.1:n.1681G>C
XM_011543590.2:c.937G>C	XP_011541892.1:p.Asp313His
XM_017009778.2:c.1027G>C	XP_016865267.1:p.Asp343His
XR_001742215.1:n.1810G>C
XR_001742216.1:n.1829G>C
XR_427718.2:n.1915G>C
XR_948290.2:n.1681G>C
XR_948291.2:n.1909G>C
NM_003060.4:c.1555G>C MANE Select	NP_003051.1:p.Asp519His
NM_001308122.2:c.1627G>C	NP_001295051.1:p.Asp543His