Canonical Allele Identifier: CA411923497

Gene: GTSE1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46308824G>C , CM000684.2:g.46308824G>C	GRCh38
NC_000022.10:g.46704721G>C , CM000684.1:g.46704721G>C	GRCh37
NC_000022.9:g.45083385G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016426.7:c.643G>C MANE Select	NP_057510.5:p.Glu215Gln
ENST00000454366.2:c.643G>C MANE Select	ENSP00000415430.1:p.Glu215Gln
NM_016426.6:c.643G>C	NP_057510.4:p.Glu215Gln
ENST00000454366.1:c.643G>C	ENSP00000415430.1:p.Glu215Gln
XM_005261627.2:c.643G>C	XP_005261684.1:p.Glu215Gln
XM_005261627.4:c.643G>C	XP_005261684.1:p.Glu215Gln
XM_011530211.1:c.184G>C	XP_011528513.1:p.Glu62Gln
XM_011530212.1:c.643G>C	XP_011528514.1:p.Glu215Gln
XM_011530213.1:c.643G>C	XP_011528515.1:p.Glu215Gln
XM_011530213.3:c.643G>C	XP_011528515.1:p.Glu215Gln
XM_017028816.2:c.643G>C	XP_016884305.1:p.Glu215Gln