Canonical Allele Identifier: CA413924944

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398912T>C , CM000685.2:g.101398912T>C	GRCh38
NC_000023.10:g.100653900T>C , CM000685.1:g.100653900T>C	GRCh37
NC_000023.9:g.100540556T>C	NCBI36
NG_007119.1:g.14052A>G , LRG_672:g.14052A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.674A>G (GLA) MANE Select	NP_000160.1:p.His225Arg
ENST00000218516.4:c.674A>G (GLA) MANE Select	ENSP00000218516.4:p.His225Arg
NM_000169.2:c.674A>G , LRG_672t1:c.674A>G (GLA)	NP_000160.1:p.His225Arg
NM_001199973.1:c.408+3455T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3455T>C
NM_001199973.2:c.300+3455T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3455T>C
NM_001199974.1:c.285+7090T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7090T>C
NM_001199974.2:c.177+7090T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7090T>C
NR_164783.1:n.753A>G (GLA)
ENST00000218516.3:c.674A>G (GLA)	ENSP00000218516.3:p.His225Arg
ENST00000409170.3:c.300+3455T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3455T>C
ENST00000409338.5:c.177+7090T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7090T>C
ENST00000466414.2:n.593A>G (GLA)
ENST00000468823.1:n.223A>G (GLA)
ENST00000468823.2:n.1609A>G (GLA)
ENST00000479445.2:n.1071A>G (GLA)
ENST00000480513.5:n.512A>G (GLA)
ENST00000480513.6:c.582A>G (GLA)	ENSP00000497055.1:p.Ser194=
ENST00000486121.5:n.719A>G (GLA)
ENST00000486121.6:c.719A>G (GLA)
ENST00000486121.7:c.*120A>G (GLA)	ENSP00000501124.2:n.*120A>G
ENST00000493905.6:c.*62A>G (GLA)	ENSP00000476935.1:n.*62A>G
ENST00000649178.1:c.797A>G (GLA)	ENSP00000498186.1:p.His266Arg
ENST00000674127.1:c.774A>G (GLA)	ENSP00000501044.1:n.774A>G
ENST00000674127.2:c.*177A>G (GLA)	ENSP00000501044.2:n.*177A>G
ENST00000674142.1:n.761A>G (GLA)
ENST00000674634.2:c.674A>G (GLA)	ENSP00000502629.2:p.His225Arg
ENST00000675592.1:c.674A>G (GLA)	ENSP00000502239.1:p.His225Arg
ENST00000675799.1:c.582A>G (GLA)	ENSP00000502661.1:p.Ser194=
ENST00000675968.1:n.3328A>G (GLA)
ENST00000676156.1:c.638A>G (GLA)	ENSP00000501730.1:p.His213Arg
ENST00000676372.1:c.674A>G (GLA)	ENSP00000502805.1:p.His225Arg
ENST00000710365.1:c.749A>G (GLA)	ENSP00000518234.1:p.His250Arg
XR_938397.1:n.759A>G (GLA)
XR_938397.2:n.780A>G (GLA)