Canonical Allele Identifier: CA2675200015

Gene: SLC22A5

Linked Data

• gnomAD v4: 5-132385355-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385358_132385359dup , CM000667.2:g.132385358_132385359dup	GRCh38
NC_000005.9:g.131721050_131721051dup , CM000667.1:g.131721050_131721051dup	GRCh37
NC_000005.8:g.131748949_131748950dup	NCBI36
NG_008982.1:g.20650_20651dup
NG_008982.2:g.20655_20656dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1044_665+1045dup	ENSP00000388838.2:n.665+1044_665+1045dup
ENST00000435065.7:c.755_756dup	ENSP00000402760.2:p.Ile253Ter
ENST00000448810.6:c.683_684dup	ENSP00000401860.2:p.Ile229Ter
ENST00000686757.1:c.702_703dup	ENSP00000510721.1:p.Asn235IlefsTer?
ENST00000687740.1:n.1843_1844dup
ENST00000688151.1:n.1875_1876dup
ENST00000689271.1:c.671+1038_671+1039dup	ENSP00000510797.1:n.671+1038_671+1039dup
ENST00000690900.1:c.672-18_672-17dup	ENSP00000510703.1:n.672-18_672-17dup
ENST00000692212.1:n.509_510dup
ENST00000692355.1:c.204+1057_204+1058dup
ENST00000692413.1:c.702_703dup	ENSP00000509374.1:p.Asn235IlefsTer?
ENST00000692825.1:c.751_752dup	ENSP00000509447.1:n.751_752dup
ENST00000693308.1:c.696_697dup	ENSP00000509770.1:p.Asn233IlefsTer?
ENST00000693763.1:n.1843_1844dup
ENST00000245407.8:c.683_684dup MANE Select	ENSP00000245407.3:p.Ile229Ter
ENST00000245407.7:c.683_684dup	ENSP00000245407.3:p.Ile229Ter
ENST00000415928.5:c.452_453dup	ENSP00000388838.1:p.Ile152Ter
ENST00000435065.6:c.755_756dup	ENSP00000402760.2:p.Ile253Ter
ENST00000437841.6:c.424_425dup	ENSP00000400553.1:p.Ter142TyrextTer?
ENST00000448810.5:c.31_32dup
ENST00000461013.5:n.8105_8106dup
NM_001308122.1:c.755_756dup	NP_001295051.1:p.Ile253Ter
NM_003060.3:c.683_684dup	NP_003051.1:p.Ile229Ter
XM_011543590.1:c.65_66dup	XP_011541892.1:p.Ile23Ter
XR_427718.1:n.1043_1044dup
XR_948290.1:n.1024_1025dup
XR_948291.1:n.1037_1038dup
XM_011543590.2:c.65_66dup	XP_011541892.1:p.Ile23Ter
XM_017009778.2:c.155_156dup	XP_016865267.1:p.Ile53Ter
XR_001742215.1:n.1024_1025dup
XR_001742216.1:n.1043_1044dup
XR_427718.2:n.1043_1044dup
XR_948290.2:n.1024_1025dup
XR_948291.2:n.1037_1038dup
NM_003060.4:c.683_684dup MANE Select	NP_003051.1:p.Ile229Ter
NM_001308122.2:c.755_756dup	NP_001295051.1:p.Ile253Ter