Canonical Allele Identifier: CA2448299129

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401655T= , CM000685.2:g.101401655T=	GRCh38
NC_000023.10:g.100656643T= , CM000685.1:g.100656643T=	GRCh37
NC_000023.9:g.100543299T=	NCBI36
NG_007119.1:g.11309A= , LRG_672:g.11309A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.524A= (GLA)	ENSP00000501124.2:p.Asp175=
ENST00000674127.2:c.524A= (GLA)	ENSP00000501044.2:p.Asp175=
ENST00000710365.1:c.599A= (GLA)	ENSP00000518234.1:p.Asp200=
ENST00000218516.4:c.524A= (GLA) MANE Select	ENSP00000218516.4:p.Asp175=
ENST00000466414.2:n.443A= (GLA)
ENST00000468823.2:n.585A= (GLA)
ENST00000479445.2:n.522A= (GLA)
ENST00000480513.6:c.524A= (GLA)	ENSP00000497055.1:p.Asp175=
ENST00000486121.6:c.454A= (GLA)
ENST00000649178.1:c.647A= (GLA)	ENSP00000498186.1:p.Asp216=
ENST00000674127.1:c.452A= (GLA)	ENSP00000501044.1:p.Asp151=
ENST00000674142.1:n.611A= (GLA)
ENST00000674634.2:c.524A= (GLA)	ENSP00000502629.2:p.Asp175=
ENST00000675592.1:c.524A= (GLA)	ENSP00000502239.1:p.Asp175=
ENST00000675799.1:c.524A= (GLA)	ENSP00000502661.1:p.Asp175=
ENST00000675968.1:n.585A= (GLA)
ENST00000676156.1:c.511+13A= (GLA)	ENSP00000501730.1:n.511+13A=
ENST00000676372.1:c.524A= (GLA)	ENSP00000502805.1:p.Asp175=
ENST00000218516.3:c.524A= (GLA)	ENSP00000218516.3:p.Asp175=
ENST00000409170.3:c.300+6198T= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6198T=
ENST00000409338.5:c.177+9833T= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9833T=
ENST00000479445.1:n.508A= (GLA)
ENST00000480513.5:n.454A= (GLA)
ENST00000486121.5:n.454A= (GLA)
ENST00000493905.6:c.524A= (GLA)	ENSP00000476935.1:p.Asp175=
NM_000169.2:c.524A= , LRG_672t1:c.524A= (GLA)	NP_000160.1:p.Asp175=
NM_001199973.1:c.408+6198T= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6198T=
NM_001199974.1:c.285+9833T= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9833T=
XR_938397.1:n.552A= (GLA)
XR_938397.2:n.573A= (GLA)
NM_001199973.2:c.300+6198T= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6198T=
NM_001199974.2:c.177+9833T= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9833T=
NM_000169.3:c.524A= (GLA) MANE Select	NP_000160.1:p.Asp175=
NR_164783.1:n.546A= (GLA)