Canonical Allele Identifier: CA382546362

Gene: EXPH5

Linked Data

• MyVariant Identifiers: chr11:g.108382317G>T (hg19) ; chr11:g.108511590G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108511590G>T , CM000673.2:g.108511590G>T	GRCh38
NC_000011.9:g.108382317G>T , CM000673.1:g.108382317G>T	GRCh37
NC_000011.8:g.107887527G>T	NCBI36
NG_042852.1:g.87149C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265843.9:c.3917C>A MANE Select	ENSP00000265843.4:p.Ser1306Ter
ENST00000265843.8:c.3917C>A	ENSP00000265843.4:p.Ser1306Ter
ENST00000525344.5:c.3896C>A	ENSP00000432546.1:p.Ser1299Ter
ENST00000526312.5:c.3689C>A	ENSP00000432683.1:p.Ser1230Ter
ENST00000533052.1:c.3353C>A	ENSP00000446434.1:p.Ser1118Ter
NM_001144763.1:c.3689C>A	NP_001138235.1:p.Ser1230Ter
NM_001144764.1:c.3449C>A	NP_001138236.1:p.Ser1150Ter
NM_001144765.1:c.3353C>A	NP_001138237.1:p.Ser1118Ter
NM_001308019.1:c.3896C>A	NP_001294948.1:p.Ser1299Ter
NM_015065.2:c.3917C>A	NP_055880.2:p.Ser1306Ter
XM_011542696.1:c.3689C>A	XP_011540998.1:p.Ser1230Ter
XM_011542698.1:c.3689C>A	XP_011541000.1:p.Ser1230Ter
XM_011542699.1:c.3353C>A	XP_011541001.1:p.Ser1118Ter
XM_011542700.1:c.3689C>A	XP_011541002.1:p.Ser1230Ter
XR_246464.2:n.590-3721G>T
XM_011542696.2:c.3689C>A	XP_011540998.1:p.Ser1230Ter
XM_011542698.2:c.3689C>A	XP_011541000.1:p.Ser1230Ter
XM_011542700.2:c.3689C>A	XP_011541002.1:p.Ser1230Ter
XM_017017397.1:c.3689C>A	XP_016872886.1:p.Ser1230Ter
XM_017017398.1:c.3686C>A	XP_016872887.1:p.Ser1229Ter
XM_017017399.1:c.3689C>A	XP_016872888.1:p.Ser1230Ter
XM_017017400.1:c.3689C>A	XP_016872889.1:p.Ser1230Ter
XM_017017401.1:c.3686C>A	XP_016872890.1:p.Ser1229Ter
XM_017017402.1:c.3449C>A	XP_016872891.1:p.Ser1150Ter
XM_017017403.1:c.3446C>A	XP_016872892.1:p.Ser1149Ter
XM_017017404.1:c.3353C>A	XP_016872893.1:p.Ser1118Ter
NM_015065.3:c.3917C>A MANE Select	NP_055880.2:p.Ser1306Ter
NM_001144763.2:c.3689C>A	NP_001138235.1:p.Ser1230Ter
NM_001144764.2:c.3449C>A	NP_001138236.1:p.Ser1150Ter
NM_001144765.2:c.3353C>A	NP_001138237.1:p.Ser1118Ter
NM_001308019.2:c.3896C>A	NP_001294948.1:p.Ser1299Ter