Canonical Allele Identifier: CA2579664647

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101398740-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398740C>A , CM000685.2:g.101398740C>A	GRCh38
NC_000023.10:g.100653728C>A , CM000685.1:g.100653728C>A	GRCh37
NC_000023.9:g.100540384C>A	NCBI36
NG_007119.1:g.14224G>T , LRG_672:g.14224G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*247+45G>T (GLA)	ENSP00000501124.2:n.*247+45G>T
ENST00000674127.2:c.*304+45G>T (GLA)	ENSP00000501044.2:n.*304+45G>T
ENST00000710365.1:c.876+45G>T (GLA)	ENSP00000518234.1:n.876+45G>T
ENST00000218516.4:c.801+45G>T (GLA) MANE Select	ENSP00000218516.4:n.801+45G>T
ENST00000466414.2:n.765G>T (GLA)
ENST00000468823.2:n.1781G>T (GLA)
ENST00000479445.2:n.1243G>T (GLA)
ENST00000480513.6:c.*109+45G>T (GLA)	ENSP00000497055.1:n.*109+45G>T
ENST00000486121.6:c.846+45G>T (GLA)
ENST00000649178.1:c.924+45G>T (GLA)	ENSP00000498186.1:n.924+45G>T
ENST00000674127.1:c.901+45G>T (GLA)	ENSP00000501044.1:n.901+45G>T
ENST00000674142.1:n.933G>T (GLA)
ENST00000674634.2:c.801+45G>T (GLA)	ENSP00000502629.2:n.801+45G>T
ENST00000675592.1:c.801+45G>T (GLA)	ENSP00000502239.1:n.801+45G>T
ENST00000675799.1:c.*154G>T (GLA)	ENSP00000502661.1:n.*154G>T
ENST00000675968.1:n.3500G>T (GLA)
ENST00000676156.1:c.765+45G>T (GLA)	ENSP00000501730.1:n.765+45G>T
ENST00000676372.1:c.846G>T (GLA)	ENSP00000502805.1:n.846G>T
ENST00000218516.3:c.801+45G>T (GLA)	ENSP00000218516.3:n.801+45G>T
ENST00000409170.3:c.300+3283C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3283C>A
ENST00000409338.5:c.177+6918C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6918C>A
ENST00000468823.1:n.395G>T (GLA)
ENST00000493905.6:c.*189+45G>T (GLA)	ENSP00000476935.1:n.*189+45G>T
NM_000169.2:c.801+45G>T , LRG_672t1:c.801+45G>T (GLA)	NP_000160.1:n.801+45G>T
NM_001199973.1:c.408+3283C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3283C>A
NM_001199974.1:c.285+6918C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6918C>A
XR_938397.1:n.886+45G>T (GLA)
XR_938397.2:n.907+45G>T (GLA)
NM_001199973.2:c.300+3283C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3283C>A
NM_001199974.2:c.177+6918C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6918C>A
NM_000169.3:c.801+45G>T (GLA) MANE Select	NP_000160.1:n.801+45G>T
NR_164783.1:n.880+45G>T (GLA)