Canonical Allele Identifier: CA2694298322

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101398639-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398639T>G , CM000685.2:g.101398639T>G	GRCh38
NC_000023.10:g.100653627T>G , CM000685.1:g.100653627T>G	GRCh37
NC_000023.9:g.100540283T>G	NCBI36
NG_007119.1:g.14325A>C , LRG_672:g.14325A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*248-72A>C (GLA)	ENSP00000501124.2:n.*248-72A>C
ENST00000674127.2:c.*305-72A>C (GLA)	ENSP00000501044.2:n.*305-72A>C
ENST00000710365.1:c.877-72A>C (GLA)	ENSP00000518234.1:n.877-72A>C
ENST00000218516.4:c.802-72A>C (GLA) MANE Select	ENSP00000218516.4:n.802-72A>C
ENST00000466414.2:n.866A>C (GLA)
ENST00000468823.2:n.1882A>C (GLA)
ENST00000479445.2:n.1344A>C (GLA)
ENST00000480513.6:c.*110-72A>C (GLA)	ENSP00000497055.1:n.*110-72A>C
ENST00000486121.6:c.847-72A>C (GLA)
ENST00000649178.1:c.925-72A>C (GLA)	ENSP00000498186.1:n.925-72A>C
ENST00000674127.1:c.902-72A>C (GLA)	ENSP00000501044.1:n.902-72A>C
ENST00000674142.1:n.1034A>C (GLA)
ENST00000674634.2:c.802-72A>C (GLA)	ENSP00000502629.2:n.802-72A>C
ENST00000675592.1:c.801+146A>C (GLA)	ENSP00000502239.1:n.801+146A>C
ENST00000675799.1:c.*255A>C (GLA)	ENSP00000502661.1:n.*255A>C
ENST00000675968.1:n.3601A>C (GLA)
ENST00000676156.1:c.766-72A>C (GLA)	ENSP00000501730.1:n.766-72A>C
ENST00000676372.1:c.868-72A>C (GLA)	ENSP00000502805.1:n.868-72A>C
ENST00000218516.3:c.802-72A>C (GLA)	ENSP00000218516.3:n.802-72A>C
ENST00000409170.3:c.300+3182T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3182T>G
ENST00000409338.5:c.177+6817T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6817T>G
ENST00000466414.1:n.56A>C (GLA)
ENST00000468823.1:n.496A>C (GLA)
ENST00000493905.6:c.*190-72A>C (GLA)	ENSP00000476935.1:n.*190-72A>C
NM_000169.2:c.802-72A>C , LRG_672t1:c.802-72A>C (GLA)	NP_000160.1:n.802-72A>C
NM_001199973.1:c.408+3182T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3182T>G
NM_001199974.1:c.285+6817T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6817T>G
XR_938397.1:n.887-72A>C (GLA)
XR_938397.2:n.908-72A>C (GLA)
NM_001199973.2:c.300+3182T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3182T>G
NM_001199974.2:c.177+6817T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6817T>G
NM_000169.3:c.802-72A>C (GLA) MANE Select	NP_000160.1:n.802-72A>C
NR_164783.1:n.881-72A>C (GLA)