Canonical Allele Identifier: CA2521391158

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101398219-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398219T>C , CM000685.2:g.101398219T>C	GRCh38
NC_000023.10:g.100653207T>C , CM000685.1:g.100653207T>C	GRCh37
NC_000023.9:g.100539863T>C	NCBI36
NG_007119.1:g.14745A>G , LRG_672:g.14745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-120A>G (GLA)	ENSP00000501124.2:n.*446-120A>G
ENST00000674127.2:c.*503-120A>G (GLA)	ENSP00000501044.2:n.*503-120A>G
ENST00000710365.1:c.1075-120A>G (GLA)	ENSP00000518234.1:n.1075-120A>G
ENST00000218516.4:c.1000-120A>G (GLA) MANE Select	ENSP00000218516.4:n.1000-120A>G
ENST00000466414.2:n.1136-120A>G (GLA)
ENST00000468823.2:n.2302A>G (GLA)
ENST00000479445.2:n.1614-120A>G (GLA)
ENST00000480513.6:c.*308-120A>G (GLA)	ENSP00000497055.1:n.*308-120A>G
ENST00000486121.6:c.1045-120A>G (GLA)
ENST00000649178.1:c.1123-120A>G (GLA)	ENSP00000498186.1:n.1123-120A>G
ENST00000674127.1:c.1100-120A>G (GLA)	ENSP00000501044.1:n.1100-120A>G
ENST00000674142.1:n.1304-120A>G (GLA)
ENST00000675592.1:c.802-120A>G (GLA)	ENSP00000502239.1:n.802-120A>G
ENST00000675799.1:c.*525-120A>G (GLA)	ENSP00000502661.1:n.*525-120A>G
ENST00000675968.1:n.3871-120A>G (GLA)
ENST00000676156.1:c.964-120A>G (GLA)	ENSP00000501730.1:n.964-120A>G
ENST00000676372.1:c.1066-120A>G (GLA)	ENSP00000502805.1:n.1066-120A>G
ENST00000218516.3:c.1000-120A>G (GLA)	ENSP00000218516.3:n.1000-120A>G
ENST00000409170.3:c.300+2762T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2762T>C
ENST00000409338.5:c.177+6397T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6397T>C
ENST00000466414.1:n.326-120A>G (GLA)
ENST00000493905.6:c.*388-120A>G (GLA)	ENSP00000476935.1:n.*388-120A>G
NM_000169.2:c.1000-120A>G , LRG_672t1:c.1000-120A>G (GLA)	NP_000160.1:n.1000-120A>G
NM_001199973.1:c.408+2762T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2762T>C
NM_001199974.1:c.285+6397T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6397T>C
XR_938397.1:n.1085-120A>G (GLA)
XR_938397.2:n.1106-120A>G (GLA)
NM_001199973.2:c.300+2762T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2762T>C
NM_001199974.2:c.177+6397T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6397T>C
NM_000169.3:c.1000-120A>G (GLA) MANE Select	NP_000160.1:n.1000-120A>G
NR_164783.1:n.1079-120A>G (GLA)