Canonical Allele Identifier: CA413928717

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401654G>T , CM000685.2:g.101401654G>T	GRCh38
NC_000023.10:g.100656642G>T , CM000685.1:g.100656642G>T	GRCh37
NC_000023.9:g.100543298G>T	NCBI36
NG_007119.1:g.11310C>A , LRG_672:g.11310C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.525C>A (GLA) MANE Select	NP_000160.1:p.Asp175Glu
ENST00000218516.4:c.525C>A (GLA) MANE Select	ENSP00000218516.4:p.Asp175Glu
NM_000169.2:c.525C>A , LRG_672t1:c.525C>A (GLA)	NP_000160.1:p.Asp175Glu
NM_001199973.1:c.408+6197G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6197G>T
NM_001199973.2:c.300+6197G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6197G>T
NM_001199974.1:c.285+9832G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9832G>T
NM_001199974.2:c.177+9832G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9832G>T
NR_164783.1:n.547C>A (GLA)
ENST00000218516.3:c.525C>A (GLA)	ENSP00000218516.3:p.Asp175Glu
ENST00000409170.3:c.300+6197G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6197G>T
ENST00000409338.5:c.177+9832G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9832G>T
ENST00000466414.2:n.444C>A (GLA)
ENST00000468823.2:n.586C>A (GLA)
ENST00000479445.1:n.509C>A (GLA)
ENST00000479445.2:n.523C>A (GLA)
ENST00000480513.5:n.455C>A (GLA)
ENST00000480513.6:c.525C>A (GLA)	ENSP00000497055.1:p.Asp175Glu
ENST00000486121.5:n.455C>A (GLA)
ENST00000486121.6:c.455C>A (GLA)
ENST00000486121.7:c.525C>A (GLA)	ENSP00000501124.2:p.Asp175Glu
ENST00000493905.6:c.525C>A (GLA)	ENSP00000476935.1:p.Asp175Glu
ENST00000649178.1:c.648C>A (GLA)	ENSP00000498186.1:p.Asp216Glu
ENST00000674127.1:c.453C>A (GLA)	ENSP00000501044.1:p.Asp151Glu
ENST00000674127.2:c.525C>A (GLA)	ENSP00000501044.2:p.Asp175Glu
ENST00000674142.1:n.612C>A (GLA)
ENST00000674634.2:c.525C>A (GLA)	ENSP00000502629.2:p.Asp175Glu
ENST00000675592.1:c.525C>A (GLA)	ENSP00000502239.1:p.Asp175Glu
ENST00000675799.1:c.525C>A (GLA)	ENSP00000502661.1:p.Asp175Glu
ENST00000675968.1:n.586C>A (GLA)
ENST00000676156.1:c.511+14C>A (GLA)	ENSP00000501730.1:n.511+14C>A
ENST00000676372.1:c.525C>A (GLA)	ENSP00000502805.1:p.Asp175Glu
ENST00000710365.1:c.600C>A (GLA)	ENSP00000518234.1:p.Asp200Glu
XR_938397.1:n.553C>A (GLA)
XR_938397.2:n.574C>A (GLA)