Canonical Allele Identifier: CA2579664598

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101398330-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398330G>T , CM000685.2:g.101398330G>T	GRCh38
NC_000023.10:g.100653318G>T , CM000685.1:g.100653318G>T	GRCh37
NC_000023.9:g.100539974G>T	NCBI36
NG_007119.1:g.14634C>A , LRG_672:g.14634C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*445+40C>A (GLA)	ENSP00000501124.2:n.*445+40C>A
ENST00000674127.2:c.*502+40C>A (GLA)	ENSP00000501044.2:n.*502+40C>A
ENST00000710365.1:c.1074+40C>A (GLA)	ENSP00000518234.1:n.1074+40C>A
ENST00000218516.4:c.999+40C>A (GLA) MANE Select	ENSP00000218516.4:n.999+40C>A
ENST00000466414.2:n.1135+40C>A (GLA)
ENST00000468823.2:n.2191C>A (GLA)
ENST00000479445.2:n.1613+40C>A (GLA)
ENST00000480513.6:c.*307+40C>A (GLA)	ENSP00000497055.1:n.*307+40C>A
ENST00000486121.6:c.1044+40C>A (GLA)
ENST00000649178.1:c.1122+40C>A (GLA)	ENSP00000498186.1:n.1122+40C>A
ENST00000674127.1:c.1099+40C>A (GLA)	ENSP00000501044.1:n.1099+40C>A
ENST00000674142.1:n.1303+40C>A (GLA)
ENST00000674634.2:c.1039C>A (GLA)	ENSP00000502629.2:p.Gln347Lys
ENST00000675592.1:c.802-231C>A (GLA)	ENSP00000502239.1:n.802-231C>A
ENST00000675799.1:c.*524+40C>A (GLA)	ENSP00000502661.1:n.*524+40C>A
ENST00000675968.1:n.3870+40C>A (GLA)
ENST00000676156.1:c.963+40C>A (GLA)	ENSP00000501730.1:n.963+40C>A
ENST00000676372.1:c.1065+40C>A (GLA)	ENSP00000502805.1:n.1065+40C>A
ENST00000218516.3:c.999+40C>A (GLA)	ENSP00000218516.3:n.999+40C>A
ENST00000409170.3:c.300+2873G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2873G>T
ENST00000409338.5:c.177+6508G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6508G>T
ENST00000466414.1:n.325+40C>A (GLA)
ENST00000493905.6:c.*387+40C>A (GLA)	ENSP00000476935.1:n.*387+40C>A
NM_000169.2:c.999+40C>A , LRG_672t1:c.999+40C>A (GLA)	NP_000160.1:n.999+40C>A
NM_001199973.1:c.408+2873G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2873G>T
NM_001199974.1:c.285+6508G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6508G>T
XR_938397.1:n.1084+40C>A (GLA)
XR_938397.2:n.1105+40C>A (GLA)
NM_001199973.2:c.300+2873G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2873G>T
NM_001199974.2:c.177+6508G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6508G>T
NM_000169.3:c.999+40C>A (GLA) MANE Select	NP_000160.1:n.999+40C>A
NR_164783.1:n.1078+40C>A (GLA)