Canonical Allele Identifier: CA2694298538

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs2147475525
• gnomAD v4: X-101400538-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400538T>C , CM000685.2:g.101400538T>C	GRCh38
NC_000023.10:g.100655526T>C , CM000685.1:g.100655526T>C	GRCh37
NC_000023.9:g.100542182T>C	NCBI36
NG_007119.1:g.12426A>G , LRG_672:g.12426A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*85+128A>G (GLA)	ENSP00000501124.2:n.*85+128A>G
ENST00000674127.2:c.*85+128A>G (GLA)	ENSP00000501044.2:n.*85+128A>G
ENST00000710365.1:c.714+128A>G (GLA)	ENSP00000518234.1:n.714+128A>G
ENST00000218516.4:c.639+128A>G (GLA) MANE Select	ENSP00000218516.4:n.639+128A>G
ENST00000466414.2:n.558+128A>G (GLA)
ENST00000468823.2:n.1574+128A>G (GLA)
ENST00000479445.2:n.1036+128A>G (GLA)
ENST00000480513.6:c.547+1094A>G (GLA)	ENSP00000497055.1:n.547+1094A>G
ENST00000486121.6:c.684+128A>G (GLA)
ENST00000649178.1:c.762+128A>G (GLA)	ENSP00000498186.1:n.762+128A>G
ENST00000674127.1:c.682+128A>G (GLA)	ENSP00000501044.1:n.682+128A>G
ENST00000674142.1:n.726+128A>G (GLA)
ENST00000674634.2:c.639+128A>G (GLA)	ENSP00000502629.2:n.639+128A>G
ENST00000675592.1:c.639+128A>G (GLA)	ENSP00000502239.1:n.639+128A>G
ENST00000675799.1:c.547+1094A>G (GLA)	ENSP00000502661.1:n.547+1094A>G
ENST00000675968.1:n.1702A>G (GLA)
ENST00000676156.1:c.603+128A>G (GLA)	ENSP00000501730.1:n.603+128A>G
ENST00000676372.1:c.639+128A>G (GLA)	ENSP00000502805.1:n.639+128A>G
ENST00000218516.3:c.639+128A>G (GLA)	ENSP00000218516.3:n.639+128A>G
ENST00000409170.3:c.300+5081T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5081T>C
ENST00000409338.5:c.177+8716T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8716T>C
ENST00000468823.1:n.188+128A>G (GLA)
ENST00000480513.5:n.477+1094A>G (GLA)
ENST00000486121.5:n.684+128A>G (GLA)
ENST00000493905.6:c.639+128A>G (GLA)	ENSP00000476935.1:n.639+128A>G
NM_000169.2:c.639+128A>G , LRG_672t1:c.639+128A>G (GLA)	NP_000160.1:n.639+128A>G
NM_001199973.1:c.408+5081T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5081T>C
NM_001199974.1:c.285+8716T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8716T>C
XR_938397.1:n.667+128A>G (GLA)
XR_938397.2:n.688+128A>G (GLA)
NM_001199973.2:c.300+5081T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5081T>C
NM_001199974.2:c.177+8716T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8716T>C
NM_000169.3:c.639+128A>G (GLA) MANE Select	NP_000160.1:n.639+128A>G
NR_164783.1:n.661+128A>G (GLA)