Canonical Allele Identifier: CA352961

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101399805G>A , CM000685.2:g.101399805G>A	GRCh38
NC_000023.10:g.100654793G>A , CM000685.1:g.100654793G>A	GRCh37
NC_000023.9:g.100541449G>A	NCBI36
NG_007119.1:g.13159C>T , LRG_672:g.13159C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.640-859C>T (GLA) MANE Select	NP_000160.1:n.640-859C>T
ENST00000218516.4:c.640-859C>T (GLA) MANE Select	ENSP00000218516.4:n.640-859C>T
NM_000169.2:c.640-859C>T , LRG_672t1:c.640-859C>T (GLA)	NP_000160.1:n.640-859C>T
NM_001199973.1:c.408+4348G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+4348G>A
NM_001199973.2:c.300+4348G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+4348G>A
NM_001199974.1:c.285+7983G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7983G>A
NM_001199974.2:c.177+7983G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7983G>A
NR_164783.1:n.662-5C>T (GLA)
ENST00000218516.3:c.640-859C>T (GLA)	ENSP00000218516.3:n.640-859C>T
ENST00000409170.3:c.300+4348G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+4348G>A
ENST00000409338.5:c.177+7983G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7983G>A
ENST00000466414.2:n.559-859C>T (GLA)
ENST00000468823.1:n.189-859C>T (GLA)
ENST00000468823.2:n.1575-859C>T (GLA)
ENST00000479445.2:n.1037-859C>T (GLA)
ENST00000480513.5:n.478-859C>T (GLA)
ENST00000480513.6:c.548-859C>T (GLA)	ENSP00000497055.1:n.548-859C>T
ENST00000486121.5:n.685-859C>T (GLA)
ENST00000486121.6:c.685-859C>T (GLA)
ENST00000486121.7:c.*86-859C>T (GLA)	ENSP00000501124.2:n.*86-859C>T
ENST00000493905.6:c.640-5C>T (GLA)	ENSP00000476935.1:n.640-5C>T
ENST00000649178.1:c.763-859C>T (GLA)	ENSP00000498186.1:n.763-859C>T
ENST00000674127.1:c.683-5C>T (GLA)	ENSP00000501044.1:n.683-5C>T
ENST00000674127.2:c.*86-5C>T (GLA)	ENSP00000501044.2:n.*86-5C>T
ENST00000674142.1:n.727-859C>T (GLA)
ENST00000674634.2:c.640-859C>T (GLA)	ENSP00000502629.2:n.640-859C>T
ENST00000675592.1:c.640-859C>T (GLA)	ENSP00000502239.1:n.640-859C>T
ENST00000675799.1:c.548-859C>T (GLA)	ENSP00000502661.1:n.548-859C>T
ENST00000675968.1:n.2435C>T (GLA)
ENST00000676156.1:c.604-859C>T (GLA)	ENSP00000501730.1:n.604-859C>T
ENST00000676372.1:c.640-859C>T (GLA)	ENSP00000502805.1:n.640-859C>T
ENST00000710365.1:c.715-859C>T (GLA)	ENSP00000518234.1:n.715-859C>T
XR_938397.1:n.668-5C>T (GLA)
XR_938397.2:n.689-5C>T (GLA)