Canonical Allele Identifier: CA2694298371

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101398950-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398950T>C , CM000685.2:g.101398950T>C	GRCh38
NC_000023.10:g.100653938T>C , CM000685.1:g.100653938T>C	GRCh37
NC_000023.9:g.100540594T>C	NCBI36
NG_007119.1:g.14014A>G , LRG_672:g.14014A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*86-4A>G (GLA)	ENSP00000501124.2:n.*86-4A>G
ENST00000674127.2:c.*143-4A>G (GLA)	ENSP00000501044.2:n.*143-4A>G
ENST00000710365.1:c.715-4A>G (GLA)	ENSP00000518234.1:n.715-4A>G
ENST00000218516.4:c.640-4A>G (GLA) MANE Select	ENSP00000218516.4:n.640-4A>G
ENST00000466414.2:n.559-4A>G (GLA)
ENST00000468823.2:n.1575-4A>G (GLA)
ENST00000479445.2:n.1037-4A>G (GLA)
ENST00000480513.6:c.548-4A>G (GLA)	ENSP00000497055.1:n.548-4A>G
ENST00000486121.6:c.685-4A>G (GLA)
ENST00000649178.1:c.763-4A>G (GLA)	ENSP00000498186.1:n.763-4A>G
ENST00000674127.1:c.740-4A>G (GLA)	ENSP00000501044.1:n.740-4A>G
ENST00000674142.1:n.727-4A>G (GLA)
ENST00000674634.2:c.640-4A>G (GLA)	ENSP00000502629.2:n.640-4A>G
ENST00000675592.1:c.640-4A>G (GLA)	ENSP00000502239.1:n.640-4A>G
ENST00000675799.1:c.548-4A>G (GLA)	ENSP00000502661.1:n.548-4A>G
ENST00000675968.1:n.3290A>G (GLA)
ENST00000676156.1:c.604-4A>G (GLA)	ENSP00000501730.1:n.604-4A>G
ENST00000676372.1:c.640-4A>G (GLA)	ENSP00000502805.1:n.640-4A>G
ENST00000218516.3:c.640-4A>G (GLA)	ENSP00000218516.3:n.640-4A>G
ENST00000409170.3:c.300+3493T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3493T>C
ENST00000409338.5:c.177+7128T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7128T>C
ENST00000468823.1:n.189-4A>G (GLA)
ENST00000480513.5:n.478-4A>G (GLA)
ENST00000486121.5:n.685-4A>G (GLA)
ENST00000493905.6:c.*28-4A>G (GLA)	ENSP00000476935.1:n.*28-4A>G
NM_000169.2:c.640-4A>G , LRG_672t1:c.640-4A>G (GLA)	NP_000160.1:n.640-4A>G
NM_001199973.1:c.408+3493T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3493T>C
NM_001199974.1:c.285+7128T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7128T>C
XR_938397.1:n.725-4A>G (GLA)
XR_938397.2:n.746-4A>G (GLA)
NM_001199973.2:c.300+3493T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3493T>C
NM_001199974.2:c.177+7128T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7128T>C
NM_000169.3:c.640-4A>G (GLA) MANE Select	NP_000160.1:n.640-4A>G
NR_164783.1:n.719-4A>G (GLA)