Canonical Allele Identifier: CA10577207

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398789T>G , CM000685.2:g.101398789T>G	GRCh38
NC_000023.10:g.100653777T>G , CM000685.1:g.100653777T>G	GRCh37
NC_000023.9:g.100540433T>G	NCBI36
NG_007119.1:g.14175A>C , LRG_672:g.14175A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*243A>C (GLA)	ENSP00000501124.2:n.*243A>C
ENST00000674127.2:c.*300A>C (GLA)	ENSP00000501044.2:n.*300A>C
ENST00000710365.1:c.872A>C (GLA)	ENSP00000518234.1:p.Asp291Ala
ENST00000218516.4:c.797A>C (GLA) MANE Select	ENSP00000218516.4:p.Asp266Ala
ENST00000466414.2:n.716A>C (GLA)
ENST00000468823.2:n.1732A>C (GLA)
ENST00000479445.2:n.1194A>C (GLA)
ENST00000480513.6:c.*105A>C (GLA)	ENSP00000497055.1:n.*105A>C
ENST00000486121.6:c.842A>C (GLA)
ENST00000649178.1:c.920A>C (GLA)	ENSP00000498186.1:p.Asp307Ala
ENST00000674127.1:c.897A>C (GLA)	ENSP00000501044.1:n.897A>C
ENST00000674142.1:n.884A>C (GLA)
ENST00000674634.2:c.797A>C (GLA)	ENSP00000502629.2:p.Asp266Ala
ENST00000675592.1:c.797A>C (GLA)	ENSP00000502239.1:p.Asp266Ala
ENST00000675799.1:c.*105A>C (GLA)	ENSP00000502661.1:n.*105A>C
ENST00000675968.1:n.3451A>C (GLA)
ENST00000676156.1:c.761A>C (GLA)	ENSP00000501730.1:p.Asp254Ala
ENST00000676372.1:c.797A>C (GLA)	ENSP00000502805.1:p.Asp266Ala
ENST00000218516.3:c.797A>C (GLA)	ENSP00000218516.3:p.Asp266Ala
ENST00000409170.3:c.300+3332T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3332T>G
ENST00000409338.5:c.177+6967T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6967T>G
ENST00000468823.1:n.346A>C (GLA)
ENST00000493905.6:c.*185A>C (GLA)	ENSP00000476935.1:n.*185A>C
NM_000169.2:c.797A>C , LRG_672t1:c.797A>C (GLA)	NP_000160.1:p.Asp266Ala
NM_001199973.1:c.408+3332T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3332T>G
NM_001199974.1:c.285+6967T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6967T>G
XR_938397.1:n.882A>C (GLA)
XR_938397.2:n.903A>C (GLA)
NM_001199973.2:c.300+3332T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3332T>G
NM_001199974.2:c.177+6967T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6967T>G
NM_000169.3:c.797A>C (GLA) MANE Select	NP_000160.1:p.Asp266Ala
NR_164783.1:n.876A>C (GLA)