Canonical Allele Identifier: CA022074

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 197639
• ClinVar RCV Id: RCV000178725 ; RCV001194307
• dbSNP Id: rs797044748
• MyVariant Identifiers: chrX:g.100653770T>C (hg19) ; chrX:g.101398782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398782T>C , CM000685.2:g.101398782T>C	GRCh38
NC_000023.10:g.100653770T>C , CM000685.1:g.100653770T>C	GRCh37
NC_000023.9:g.100540426T>C	NCBI36
NG_007119.1:g.14182A>G , LRG_672:g.14182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*247+3A>G (GLA)	ENSP00000501124.2:n.*247+3A>G
ENST00000674127.2:c.*304+3A>G (GLA)	ENSP00000501044.2:n.*304+3A>G
ENST00000710365.1:c.876+3A>G (GLA)	ENSP00000518234.1:n.876+3A>G
ENST00000218516.4:c.801+3A>G (GLA) MANE Select	ENSP00000218516.4:n.801+3A>G
ENST00000466414.2:n.723A>G (GLA)
ENST00000468823.2:n.1739A>G (GLA)
ENST00000479445.2:n.1201A>G (GLA)
ENST00000480513.6:c.*109+3A>G (GLA)	ENSP00000497055.1:n.*109+3A>G
ENST00000486121.6:c.846+3A>G (GLA)
ENST00000649178.1:c.924+3A>G (GLA)	ENSP00000498186.1:n.924+3A>G
ENST00000674127.1:c.901+3A>G (GLA)	ENSP00000501044.1:n.901+3A>G
ENST00000674142.1:n.891A>G (GLA)
ENST00000674634.2:c.801+3A>G (GLA)	ENSP00000502629.2:n.801+3A>G
ENST00000675592.1:c.801+3A>G (GLA)	ENSP00000502239.1:n.801+3A>G
ENST00000675799.1:c.*112A>G (GLA)	ENSP00000502661.1:n.*112A>G
ENST00000675968.1:n.3458A>G (GLA)
ENST00000676156.1:c.765+3A>G (GLA)	ENSP00000501730.1:n.765+3A>G
ENST00000676372.1:c.804A>G (GLA)	ENSP00000502805.1:p.Val268=
ENST00000218516.3:c.801+3A>G (GLA)	ENSP00000218516.3:n.801+3A>G
ENST00000409170.3:c.300+3325T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3325T>C
ENST00000409338.5:c.177+6960T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6960T>C
ENST00000468823.1:n.353A>G (GLA)
ENST00000493905.6:c.*189+3A>G (GLA)	ENSP00000476935.1:n.*189+3A>G
NM_000169.2:c.801+3A>G , LRG_672t1:c.801+3A>G (GLA)	NP_000160.1:n.801+3A>G
NM_001199973.1:c.408+3325T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3325T>C
NM_001199974.1:c.285+6960T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6960T>C
XR_938397.1:n.886+3A>G (GLA)
XR_938397.2:n.907+3A>G (GLA)
NM_001199973.2:c.300+3325T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3325T>C
NM_001199974.2:c.177+6960T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6960T>C
NM_000169.3:c.801+3A>G (GLA) MANE Select	NP_000160.1:n.801+3A>G
NR_164783.1:n.880+3A>G (GLA)