Canonical Allele Identifier: CA352632
Community Standard Title: NM_000169.3(GLA):c.782G>T (p.Gly261Val)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398804C>A , CM000685.2:g.101398804C>A GRCh38
NC_000023.10:g.100653792C>A , CM000685.1:g.100653792C>A GRCh37
NC_000023.9:g.100540448C>A NCBI36
NG_007119.1:g.14160G>T , LRG_672:g.14160G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.782G>T (GLA) MANE Select NP_000160.1:p.Gly261Val
ENST00000218516.4:c.782G>T (GLA) MANE Select ENSP00000218516.4:p.Gly261Val
NM_000169.2:c.782G>T , LRG_672t1:c.782G>T (GLA) NP_000160.1:p.Gly261Val
NM_001199973.1:c.408+3347C>A (RPL36A-HNRNPH2) NP_001186902.1:n.408+3347C>A
NM_001199973.2:c.300+3347C>A (RPL36A-HNRNPH2) NP_001186902.2:n.300+3347C>A
NM_001199974.1:c.285+6982C>A (RPL36A-HNRNPH2) NP_001186903.1:n.285+6982C>A
NM_001199974.2:c.177+6982C>A (RPL36A-HNRNPH2) NP_001186903.2:n.177+6982C>A
NR_164783.1:n.861G>T (GLA)
ENST00000218516.3:c.782G>T (GLA) ENSP00000218516.3:p.Gly261Val
ENST00000409170.3:c.300+3347C>A (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3347C>A
ENST00000409338.5:c.177+6982C>A (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6982C>A
ENST00000466414.2:n.701G>T (GLA)
ENST00000468823.1:n.331G>T (GLA)
ENST00000468823.2:n.1717G>T (GLA)
ENST00000479445.2:n.1179G>T (GLA)
ENST00000480513.6:c.*90G>T (GLA) ENSP00000497055.1:n.*90G>T
ENST00000486121.6:c.827G>T (GLA)
ENST00000486121.7:c.*228G>T (GLA) ENSP00000501124.2:n.*228G>T
ENST00000493905.6:c.*170G>T (GLA) ENSP00000476935.1:n.*170G>T
ENST00000649178.1:c.905G>T (GLA) ENSP00000498186.1:p.Gly302Val
ENST00000674127.1:c.882G>T (GLA) ENSP00000501044.1:n.882G>T
ENST00000674127.2:c.*285G>T (GLA) ENSP00000501044.2:n.*285G>T
ENST00000674142.1:n.869G>T (GLA)
ENST00000674634.2:c.782G>T (GLA) ENSP00000502629.2:p.Gly261Val
ENST00000675592.1:c.782G>T (GLA) ENSP00000502239.1:p.Gly261Val
ENST00000675799.1:c.*90G>T (GLA) ENSP00000502661.1:n.*90G>T
ENST00000675968.1:n.3436G>T (GLA)
ENST00000676156.1:c.746G>T (GLA) ENSP00000501730.1:p.Gly249Val
ENST00000676372.1:c.782G>T (GLA) ENSP00000502805.1:p.Gly261Val
ENST00000710365.1:c.857G>T (GLA) ENSP00000518234.1:p.Gly286Val
XR_938397.1:n.867G>T (GLA)
XR_938397.2:n.888G>T (GLA)