Canonical Allele Identifier: CA2545322182

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2800322
• ClinVar RCV Id: RCV003622456

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101404001C>T , CM000685.2:g.101404001C>T	GRCh38
NC_000023.10:g.100658989C>T , CM000685.1:g.100658989C>T	GRCh37
NC_000023.9:g.100545645C>T	NCBI36
NG_007119.1:g.8963G>A , LRG_672:g.8963G>A
NG_016327.1:g.799C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.195-16G>A (GLA)	ENSP00000501124.2:n.195-16G>A
ENST00000674127.2:c.195-16G>A (GLA)	ENSP00000501044.2:n.195-16G>A
ENST00000710365.1:c.270-16G>A (GLA)	ENSP00000518234.1:n.270-16G>A
ENST00000218516.4:c.195-16G>A (GLA) MANE Select	ENSP00000218516.4:n.195-16G>A
ENST00000466414.2:n.114-16G>A (GLA)
ENST00000468823.2:n.256-16G>A (GLA)
ENST00000479445.2:n.193-16G>A (GLA)
ENST00000480513.6:c.195-16G>A (GLA)	ENSP00000497055.1:n.195-16G>A
ENST00000486121.6:c.125-16G>A (GLA)
ENST00000649178.1:c.318-16G>A (GLA)	ENSP00000498186.1:n.318-16G>A
ENST00000674127.1:c.123-16G>A (GLA)	ENSP00000501044.1:n.123-16G>A
ENST00000674142.1:n.282-16G>A (GLA)
ENST00000674634.2:c.195-16G>A (GLA)	ENSP00000502629.2:n.195-16G>A
ENST00000675592.1:c.195-16G>A (GLA)	ENSP00000502239.1:n.195-16G>A
ENST00000675799.1:c.195-16G>A (GLA)	ENSP00000502661.1:n.195-16G>A
ENST00000675968.1:n.256-16G>A (GLA)
ENST00000676156.1:c.195-16G>A (GLA)	ENSP00000501730.1:n.195-16G>A
ENST00000676372.1:c.195-16G>A (GLA)	ENSP00000502805.1:n.195-16G>A
ENST00000218516.3:c.195-16G>A (GLA)	ENSP00000218516.3:n.195-16G>A
ENST00000409170.3:c.301-7935C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-7935C>T
ENST00000409338.5:c.178-7935C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-7935C>T
ENST00000479445.1:n.179-16G>A (GLA)
ENST00000480513.5:n.125-16G>A (GLA)
ENST00000486121.5:n.125-16G>A (GLA)
ENST00000493905.6:c.195-16G>A (GLA)	ENSP00000476935.1:n.195-16G>A
NM_000169.2:c.195-16G>A , LRG_672t1:c.195-16G>A (GLA)	NP_000160.1:n.195-16G>A
NM_001199973.1:c.409-7935C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.409-7935C>T
NM_001199974.1:c.286-7935C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.286-7935C>T
XR_938397.1:n.223-16G>A (GLA)
XR_938397.2:n.244-16G>A (GLA)
NM_001199973.2:c.301-7935C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.301-7935C>T
NM_001199974.2:c.178-7935C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.178-7935C>T
NM_000169.3:c.195-16G>A (GLA) MANE Select	NP_000160.1:n.195-16G>A
NR_164783.1:n.217-16G>A (GLA)