Canonical Allele Identifier: CA2822690050

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407667C>G , CM000685.2:g.101407667C>G	GRCh38
NC_000023.10:g.100662655C>G , CM000685.1:g.100662655C>G	GRCh37
NC_000023.9:g.100549311C>G	NCBI36
NG_007119.1:g.5297G>C , LRG_672:g.5297G>C
NG_016327.1:g.4465C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.194+43G>C (GLA)	ENSP00000501124.2:n.194+43G>C
ENST00000674127.2:c.194+43G>C (GLA)	ENSP00000501044.2:n.194+43G>C
ENST00000710365.1:c.194+43G>C (GLA)	ENSP00000518234.1:n.194+43G>C
ENST00000218516.4:c.194+43G>C (GLA) MANE Select	ENSP00000218516.4:n.194+43G>C
ENST00000466414.2:n.113+43G>C (GLA)
ENST00000468823.2:n.255+43G>C (GLA)
ENST00000479445.2:n.192+43G>C (GLA)
ENST00000480513.6:c.194+43G>C (GLA)	ENSP00000497055.1:n.194+43G>C
ENST00000486121.6:c.124+43G>C (GLA)
ENST00000649178.1:c.194+43G>C (GLA)	ENSP00000498186.1:n.194+43G>C
ENST00000674127.1:c.122+43G>C (GLA)	ENSP00000501044.1:n.122+43G>C
ENST00000674142.1:n.281+43G>C (GLA)
ENST00000674634.2:c.194+43G>C (GLA)	ENSP00000502629.2:n.194+43G>C
ENST00000675592.1:c.194+43G>C (GLA)	ENSP00000502239.1:n.194+43G>C
ENST00000675799.1:c.194+43G>C (GLA)	ENSP00000502661.1:n.194+43G>C
ENST00000675968.1:n.255+43G>C (GLA)
ENST00000676156.1:c.194+43G>C (GLA)	ENSP00000501730.1:n.194+43G>C
ENST00000676372.1:c.194+43G>C (GLA)	ENSP00000502805.1:n.194+43G>C
ENST00000218516.3:c.194+43G>C (GLA)	ENSP00000218516.3:n.194+43G>C
ENST00000409170.3:c.301-4269C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4269C>G
ENST00000409338.5:c.178-4269C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4269C>G
ENST00000479445.1:n.178+43G>C (GLA)
ENST00000480513.5:n.124+43G>C (GLA)
ENST00000486121.5:n.124+43G>C (GLA)
ENST00000493905.6:c.194+43G>C (GLA)	ENSP00000476935.1:n.194+43G>C
NM_000169.2:c.194+43G>C , LRG_672t1:c.194+43G>C (GLA)	NP_000160.1:n.194+43G>C
NM_001199973.1:c.409-4269C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4269C>G
NM_001199974.1:c.286-4269C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4269C>G
XR_938397.1:n.222+43G>C (GLA)
XR_938397.2:n.243+43G>C (GLA)
NM_001199973.2:c.301-4269C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4269C>G
NM_001199974.2:c.178-4269C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4269C>G
NM_000169.3:c.194+43G>C (GLA) MANE Select	NP_000160.1:n.194+43G>C
NR_164783.1:n.216+43G>C (GLA)