Canonical Allele Identifier: CA2448297579

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397972A= , CM000685.2:g.101397972A=	GRCh38
NC_000023.10:g.100652960A= , CM000685.1:g.100652960A=	GRCh37
NC_000023.9:g.100539616A=	NCBI36
NG_007119.1:g.14992T= , LRG_672:g.14992T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*573T= (GLA)	ENSP00000501124.2:n.*573T=
ENST00000674127.2:c.*630T= (GLA)	ENSP00000501044.2:n.*630T=
ENST00000710365.1:c.1202T= (GLA)	ENSP00000518234.1:p.Val401=
ENST00000218516.4:c.1127T= (GLA) MANE Select	ENSP00000218516.4:p.Val376=
ENST00000466414.2:n.1263T= (GLA)
ENST00000468823.2:n.2549T= (GLA)
ENST00000479445.2:n.1741T= (GLA)
ENST00000480513.6:c.*435T= (GLA)	ENSP00000497055.1:n.*435T=
ENST00000486121.6:c.1172T= (GLA)
ENST00000649178.1:c.1250T= (GLA)	ENSP00000498186.1:p.Val417=
ENST00000674127.1:c.1227T= (GLA)	ENSP00000501044.1:n.1227T=
ENST00000674142.1:n.1421+10T= (GLA)
ENST00000675592.1:c.929T= (GLA)	ENSP00000502239.1:p.Val310=
ENST00000675799.1:c.*652T= (GLA)	ENSP00000502661.1:n.*652T=
ENST00000675968.1:n.3998T= (GLA)
ENST00000676156.1:c.1091T= (GLA)	ENSP00000501730.1:p.Val364=
ENST00000676372.1:c.1193T= (GLA)	ENSP00000502805.1:n.1193T=
ENST00000218516.3:c.1127T= (GLA)	ENSP00000218516.3:p.Val376=
ENST00000409170.3:c.300+2515A= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2515A=
ENST00000409338.5:c.177+6150A= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6150A=
ENST00000466414.1:n.453T= (GLA)
ENST00000493905.6:c.*515T= (GLA)	ENSP00000476935.1:n.*515T=
NM_000169.2:c.1127T= , LRG_672t1:c.1127T= (GLA)	NP_000160.1:p.Val376=
NM_001199973.1:c.408+2515A= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2515A=
NM_001199974.1:c.285+6150A= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6150A=
XR_938397.1:n.1212T= (GLA)
XR_938397.2:n.1233T= (GLA)
NM_001199973.2:c.300+2515A= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2515A=
NM_001199974.2:c.177+6150A= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6150A=
NM_000169.3:c.1127T= (GLA) MANE Select	NP_000160.1:p.Val376=
NR_164783.1:n.1206T= (GLA)