Canonical Allele Identifier: CA1135845684

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1928179100
• gnomAD v3: X-101398680-C-T
• gnomAD v4: X-101398680-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398680C>T , CM000685.2:g.101398680C>T	GRCh38
NC_000023.10:g.100653668C>T , CM000685.1:g.100653668C>T	GRCh37
NC_000023.9:g.100540324C>T	NCBI36
NG_007119.1:g.14284G>A , LRG_672:g.14284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*247+105G>A (GLA)	ENSP00000501124.2:n.*247+105G>A
ENST00000674127.2:c.*304+105G>A (GLA)	ENSP00000501044.2:n.*304+105G>A
ENST00000710365.1:c.876+105G>A (GLA)	ENSP00000518234.1:n.876+105G>A
ENST00000218516.4:c.801+105G>A (GLA) MANE Select	ENSP00000218516.4:n.801+105G>A
ENST00000466414.2:n.825G>A (GLA)
ENST00000468823.2:n.1841G>A (GLA)
ENST00000479445.2:n.1303G>A (GLA)
ENST00000480513.6:c.*109+105G>A (GLA)	ENSP00000497055.1:n.*109+105G>A
ENST00000486121.6:c.846+105G>A (GLA)
ENST00000649178.1:c.924+105G>A (GLA)	ENSP00000498186.1:n.924+105G>A
ENST00000674127.1:c.901+105G>A (GLA)	ENSP00000501044.1:n.901+105G>A
ENST00000674142.1:n.993G>A (GLA)
ENST00000674634.2:c.801+105G>A (GLA)	ENSP00000502629.2:n.801+105G>A
ENST00000675592.1:c.801+105G>A (GLA)	ENSP00000502239.1:n.801+105G>A
ENST00000675799.1:c.*214G>A (GLA)	ENSP00000502661.1:n.*214G>A
ENST00000675968.1:n.3560G>A (GLA)
ENST00000676156.1:c.765+105G>A (GLA)	ENSP00000501730.1:n.765+105G>A
ENST00000676372.1:c.867+39G>A (GLA)	ENSP00000502805.1:n.867+39G>A
ENST00000218516.3:c.801+105G>A (GLA)	ENSP00000218516.3:n.801+105G>A
ENST00000409170.3:c.300+3223C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3223C>T
ENST00000409338.5:c.177+6858C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6858C>T
ENST00000466414.1:n.15G>A (GLA)
ENST00000468823.1:n.455G>A (GLA)
ENST00000493905.6:c.*189+105G>A (GLA)	ENSP00000476935.1:n.*189+105G>A
NM_000169.2:c.801+105G>A , LRG_672t1:c.801+105G>A (GLA)	NP_000160.1:n.801+105G>A
NM_001199973.1:c.408+3223C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3223C>T
NM_001199974.1:c.285+6858C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6858C>T
XR_938397.1:n.886+105G>A (GLA)
XR_938397.2:n.907+105G>A (GLA)
NM_001199973.2:c.300+3223C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3223C>T
NM_001199974.2:c.177+6858C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6858C>T
NM_000169.3:c.801+105G>A (GLA) MANE Select	NP_000160.1:n.801+105G>A
NR_164783.1:n.880+105G>A (GLA)