Canonical Allele Identifier: CA021924

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 10730
• ClinVar RCV Id: RCV000011477 ; RCV000157896 ; RCV000618059 ; RCV000844705 ; RCV001798000
• dbSNP Id: rs28935197
• gnomAD v2: X-100653930-T-C
• gnomAD v4: X-101398942-T-C
• MyVariant Identifiers: chrX:g.100653930T>C (hg19) ; chrX:g.101398942T>C (hg38)
• PubMed: PMID:7504405 ; PMID:7911050 ; PMID:8395937 ; PMID:10666480 ; PMID:11531969 ; PMID:15702404 ; PMID:16773563 ; PMID:17555407 ; PMID:18849176 ; PMID:21062768 ; PMID:21598360 ; PMID:21972175 ; PMID:23568732 ; PMID:23818648 ; PMID:23935525 ; PMID:25611685 ; PMID:26047621 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398942T>C , CM000685.2:g.101398942T>C	GRCh38
NC_000023.10:g.100653930T>C , CM000685.1:g.100653930T>C	GRCh37
NC_000023.9:g.100540586T>C	NCBI36
NG_007119.1:g.14022A>G , LRG_672:g.14022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*90A>G (GLA)	ENSP00000501124.2:n.*90A>G
ENST00000674127.2:c.*147A>G (GLA)	ENSP00000501044.2:n.*147A>G
ENST00000710365.1:c.719A>G (GLA)	ENSP00000518234.1:p.Asn240Ser
ENST00000218516.4:c.644A>G (GLA) MANE Select	ENSP00000218516.4:p.Asn215Ser
ENST00000466414.2:n.563A>G (GLA)
ENST00000468823.2:n.1579A>G (GLA)
ENST00000479445.2:n.1041A>G (GLA)
ENST00000480513.6:c.552A>G (GLA)	ENSP00000497055.1:p.Gln184=
ENST00000486121.6:c.689A>G (GLA)
ENST00000649178.1:c.767A>G (GLA)	ENSP00000498186.1:p.Asn256Ser
ENST00000674127.1:c.744A>G (GLA)	ENSP00000501044.1:n.744A>G
ENST00000674142.1:n.731A>G (GLA)
ENST00000674634.2:c.644A>G (GLA)	ENSP00000502629.2:p.Asn215Ser
ENST00000675592.1:c.644A>G (GLA)	ENSP00000502239.1:p.Asn215Ser
ENST00000675799.1:c.552A>G (GLA)	ENSP00000502661.1:p.Gln184=
ENST00000675968.1:n.3298A>G (GLA)
ENST00000676156.1:c.608A>G (GLA)	ENSP00000501730.1:p.Asn203Ser
ENST00000676372.1:c.644A>G (GLA)	ENSP00000502805.1:p.Asn215Ser
ENST00000218516.3:c.644A>G (GLA)	ENSP00000218516.3:p.Asn215Ser
ENST00000409170.3:c.300+3485T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3485T>C
ENST00000409338.5:c.177+7120T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7120T>C
ENST00000468823.1:n.193A>G (GLA)
ENST00000480513.5:n.482A>G (GLA)
ENST00000486121.5:n.689A>G (GLA)
ENST00000493905.6:c.*32A>G (GLA)	ENSP00000476935.1:n.*32A>G
NM_000169.2:c.644A>G , LRG_672t1:c.644A>G (GLA)	NP_000160.1:p.Asn215Ser
NM_001199973.1:c.408+3485T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3485T>C
NM_001199974.1:c.285+7120T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7120T>C
XR_938397.1:n.729A>G (GLA)
XR_938397.2:n.750A>G (GLA)
NM_001199973.2:c.300+3485T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3485T>C
NM_001199974.2:c.177+7120T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7120T>C
NM_000169.3:c.644A>G (GLA) MANE Select	NP_000160.1:p.Asn215Ser
NR_164783.1:n.723A>G (GLA)