Canonical Allele Identifier: CA446338854

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132390831-C-T
• MyVariant Identifiers: chr5:g.131726523C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390831C>T , CM000667.2:g.132390831C>T	GRCh38
NC_000005.9:g.131726523C>T , CM000667.1:g.131726523C>T	GRCh37
NC_000005.8:g.131754422C>T	NCBI36
NG_008982.1:g.26123C>T
NG_008982.2:g.26128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1035C>T	ENSP00000388838.2:p.Pro345=
ENST00000435065.7:c.1266C>T	ENSP00000402760.2:p.Pro422=
ENST00000448810.6:c.*46C>T	ENSP00000401860.2:n.*46C>T
ENST00000685543.1:n.1335C>T
ENST00000686757.1:c.*358C>T	ENSP00000510721.1:n.*358C>T
ENST00000687740.1:n.3879C>T
ENST00000688151.1:n.2504C>T
ENST00000689271.1:c.1041C>T	ENSP00000510797.1:p.Pro347=
ENST00000690900.1:c.*358C>T	ENSP00000510703.1:n.*358C>T
ENST00000692212.1:n.2806C>T
ENST00000692355.1:c.447C>T
ENST00000692413.1:c.1176C>T	ENSP00000509374.1:p.Pro392=
ENST00000692825.1:c.1262C>T	ENSP00000509447.1:n.1262C>T
ENST00000693308.1:c.1242C>T	ENSP00000509770.1:p.Pro414=
ENST00000693763.1:n.2354C>T
ENST00000245407.8:c.1194C>T MANE Select	ENSP00000245407.3:p.Pro398=
ENST00000245407.7:c.1194C>T	ENSP00000245407.3:p.Pro398=
ENST00000435065.6:c.1266C>T	ENSP00000402760.2:p.Pro422=
ENST00000447841.5:c.112-1602C>T
ENST00000448810.5:c.456C>T
ENST00000461013.5:n.8616C>T
ENST00000475308.1:n.1872C>T
ENST00000479605.5:n.297C>T
NM_001308122.1:c.1266C>T	NP_001295051.1:p.Pro422=
NM_003060.3:c.1194C>T	NP_003051.1:p.Pro398=
XM_011543590.1:c.576C>T	XP_011541892.1:p.Pro192=
XR_427718.1:n.1554C>T
XR_948290.1:n.1394-1602C>T
XR_948291.1:n.1548C>T
XM_011543590.2:c.576C>T	XP_011541892.1:p.Pro192=
XM_017009778.2:c.666C>T	XP_016865267.1:p.Pro222=
XR_001742215.1:n.1449C>T
XR_001742216.1:n.1468C>T
XR_427718.2:n.1554C>T
XR_948290.2:n.1394-1602C>T
XR_948291.2:n.1548C>T
NM_003060.4:c.1194C>T MANE Select	NP_003051.1:p.Pro398=
NM_001308122.2:c.1266C>T	NP_001295051.1:p.Pro422=