Canonical Allele Identifier: CA352509
Community Standard Title: NM_000169.3(GLA):c.4C>T (p.Gln2Ter)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101407900G>A , CM000685.2:g.101407900G>A GRCh38
NC_000023.10:g.100662888G>A , CM000685.1:g.100662888G>A GRCh37
NC_000023.9:g.100549544G>A NCBI36
NG_007119.1:g.5064C>T , LRG_672:g.5064C>T
NG_016327.1:g.4698G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.4C>T (GLA) MANE Select NP_000160.1:p.Gln2Ter
ENST00000218516.4:c.4C>T (GLA) MANE Select ENSP00000218516.4:p.Gln2Ter
NM_000169.2:c.4C>T , LRG_672t1:c.4C>T (GLA) NP_000160.1:p.Gln2Ter
NM_001199973.1:c.409-4036G>A (RPL36A-HNRNPH2) NP_001186902.1:n.409-4036G>A
NM_001199973.2:c.301-4036G>A (RPL36A-HNRNPH2) NP_001186902.2:n.301-4036G>A
NM_001199974.1:c.286-4036G>A (RPL36A-HNRNPH2) NP_001186903.1:n.286-4036G>A
NM_001199974.2:c.178-4036G>A (RPL36A-HNRNPH2) NP_001186903.2:n.178-4036G>A
NR_164783.1:n.26C>T (GLA)
ENST00000218516.3:c.4C>T (GLA) ENSP00000218516.3:p.Gln2Ter
ENST00000409170.3:c.301-4036G>A (RPL36A-HNRNPH2) ENSP00000386655.4:n.301-4036G>A
ENST00000409338.5:c.178-4036G>A (RPL36A-HNRNPH2) ENSP00000386974.2:n.178-4036G>A
ENST00000468823.2:n.65C>T (GLA)
ENST00000479445.2:n.2C>T (GLA)
ENST00000480513.6:c.4C>T (GLA) ENSP00000497055.1:p.Gln2Ter
ENST00000486121.7:c.4C>T (GLA) ENSP00000501124.2:p.Gln2Ter
ENST00000493905.6:c.4C>T (GLA) ENSP00000476935.1:p.Gln2Ter
ENST00000649178.1:c.4C>T (GLA) ENSP00000498186.1:p.Gln2Ter
ENST00000674127.2:c.4C>T (GLA) ENSP00000501044.2:p.Gln2Ter
ENST00000674142.1:n.91C>T (GLA)
ENST00000674634.2:c.4C>T (GLA) ENSP00000502629.2:p.Gln2Ter
ENST00000675592.1:c.4C>T (GLA) ENSP00000502239.1:p.Gln2Ter
ENST00000675799.1:c.4C>T (GLA) ENSP00000502661.1:p.Gln2Ter
ENST00000675968.1:n.65C>T (GLA)
ENST00000676156.1:c.4C>T (GLA) ENSP00000501730.1:p.Gln2Ter
ENST00000676372.1:c.4C>T (GLA) ENSP00000502805.1:p.Gln2Ter
ENST00000710365.1:c.4C>T (GLA) ENSP00000518234.1:p.Gln2Ter
XR_938397.1:n.32C>T (GLA)
XR_938397.2:n.53C>T (GLA)