Canonical Allele Identifier: CA352614

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 222384
• ClinVar RCV Id: RCV000593162 ; RCV000726800
• dbSNP Id: rs869312399
• MyVariant Identifiers: chrX:g.100653798G>C (hg19) ; chrX:g.101398810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398810G>C , CM000685.2:g.101398810G>C	GRCh38
NC_000023.10:g.100653798G>C , CM000685.1:g.100653798G>C	GRCh37
NC_000023.9:g.100540454G>C	NCBI36
NG_007119.1:g.14154C>G , LRG_672:g.14154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*222C>G (GLA)	ENSP00000501124.2:n.*222C>G
ENST00000674127.2:c.*279C>G (GLA)	ENSP00000501044.2:n.*279C>G
ENST00000710365.1:c.851C>G (GLA)	ENSP00000518234.1:p.Pro284Arg
ENST00000218516.4:c.776C>G (GLA) MANE Select	ENSP00000218516.4:p.Pro259Arg
ENST00000466414.2:n.695C>G (GLA)
ENST00000468823.2:n.1711C>G (GLA)
ENST00000479445.2:n.1173C>G (GLA)
ENST00000480513.6:c.*84C>G (GLA)	ENSP00000497055.1:n.*84C>G
ENST00000486121.6:c.821C>G (GLA)
ENST00000649178.1:c.899C>G (GLA)	ENSP00000498186.1:p.Pro300Arg
ENST00000674127.1:c.876C>G (GLA)	ENSP00000501044.1:n.876C>G
ENST00000674142.1:n.863C>G (GLA)
ENST00000674634.2:c.776C>G (GLA)	ENSP00000502629.2:p.Pro259Arg
ENST00000675592.1:c.776C>G (GLA)	ENSP00000502239.1:p.Pro259Arg
ENST00000675799.1:c.*84C>G (GLA)	ENSP00000502661.1:n.*84C>G
ENST00000675968.1:n.3430C>G (GLA)
ENST00000676156.1:c.740C>G (GLA)	ENSP00000501730.1:p.Pro247Arg
ENST00000676372.1:c.776C>G (GLA)	ENSP00000502805.1:p.Pro259Arg
ENST00000218516.3:c.776C>G (GLA)	ENSP00000218516.3:p.Pro259Arg
ENST00000409170.3:c.300+3353G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3353G>C
ENST00000409338.5:c.177+6988G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6988G>C
ENST00000468823.1:n.325C>G (GLA)
ENST00000493905.6:c.*164C>G (GLA)	ENSP00000476935.1:n.*164C>G
NM_000169.2:c.776C>G , LRG_672t1:c.776C>G (GLA)	NP_000160.1:p.Pro259Arg
NM_001199973.1:c.408+3353G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3353G>C
NM_001199974.1:c.285+6988G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6988G>C
XR_938397.1:n.861C>G (GLA)
XR_938397.2:n.882C>G (GLA)
NM_001199973.2:c.300+3353G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3353G>C
NM_001199974.2:c.177+6988G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6988G>C
NM_000169.3:c.776C>G (GLA) MANE Select	NP_000160.1:p.Pro259Arg
NR_164783.1:n.855C>G (GLA)