Canonical Allele Identifier: CA2841850647

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398591C>A , CM000685.2:g.101398591C>A	GRCh38
NC_000023.10:g.100653579C>A , CM000685.1:g.100653579C>A	GRCh37
NC_000023.9:g.100540235C>A	NCBI36
NG_007119.1:g.14373G>T , LRG_672:g.14373G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*248-24G>T (GLA)	ENSP00000501124.2:n.*248-24G>T
ENST00000674127.2:c.*305-24G>T (GLA)	ENSP00000501044.2:n.*305-24G>T
ENST00000710365.1:c.877-24G>T (GLA)	ENSP00000518234.1:n.877-24G>T
ENST00000218516.4:c.802-24G>T (GLA) MANE Select	ENSP00000218516.4:n.802-24G>T
ENST00000466414.2:n.914G>T (GLA)
ENST00000468823.2:n.1930G>T (GLA)
ENST00000479445.2:n.1392G>T (GLA)
ENST00000480513.6:c.*110-24G>T (GLA)	ENSP00000497055.1:n.*110-24G>T
ENST00000486121.6:c.847-24G>T (GLA)
ENST00000649178.1:c.925-24G>T (GLA)	ENSP00000498186.1:n.925-24G>T
ENST00000674127.1:c.902-24G>T (GLA)	ENSP00000501044.1:n.902-24G>T
ENST00000674142.1:n.1082G>T (GLA)
ENST00000674634.2:c.802-24G>T (GLA)	ENSP00000502629.2:n.802-24G>T
ENST00000675592.1:c.801+194G>T (GLA)	ENSP00000502239.1:n.801+194G>T
ENST00000675799.1:c.*303G>T (GLA)	ENSP00000502661.1:n.*303G>T
ENST00000675968.1:n.3649G>T (GLA)
ENST00000676156.1:c.766-24G>T (GLA)	ENSP00000501730.1:n.766-24G>T
ENST00000676372.1:c.868-24G>T (GLA)	ENSP00000502805.1:n.868-24G>T
ENST00000218516.3:c.802-24G>T (GLA)	ENSP00000218516.3:n.802-24G>T
ENST00000409170.3:c.300+3134C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3134C>A
ENST00000409338.5:c.177+6769C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6769C>A
ENST00000466414.1:n.104G>T (GLA)
ENST00000468823.1:n.544G>T (GLA)
ENST00000493905.6:c.*190-24G>T (GLA)	ENSP00000476935.1:n.*190-24G>T
NM_000169.2:c.802-24G>T , LRG_672t1:c.802-24G>T (GLA)	NP_000160.1:n.802-24G>T
NM_001199973.1:c.408+3134C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3134C>A
NM_001199974.1:c.285+6769C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6769C>A
XR_938397.1:n.887-24G>T (GLA)
XR_938397.2:n.908-24G>T (GLA)
NM_001199973.2:c.300+3134C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3134C>A
NM_001199974.2:c.177+6769C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6769C>A
NM_000169.3:c.802-24G>T (GLA) MANE Select	NP_000160.1:n.802-24G>T
NR_164783.1:n.881-24G>T (GLA)