Canonical Allele Identifier: CA021300
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10724
ClinVar RCV Id: RCV000011471 RCV000723530
dbSNP Id: rs104894835
MyVariant Identifiers: chrX:g.100662791T>C (hg19) chrX:g.101407803T>C (hg38)
PubMed: PMID:7504405
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101407803T>C , CM000685.2:g.101407803T>C GRCh38
NC_000023.10:g.100662791T>C , CM000685.1:g.100662791T>C GRCh37
NC_000023.9:g.100549447T>C NCBI36
NG_007119.1:g.5161A>G , LRG_672:g.5161A>G
NG_016327.1:g.4601T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.101A>G (GLA) ENSP00000501124.2:p.Asn34Ser
ENST00000674127.2:c.101A>G (GLA) ENSP00000501044.2:p.Asn34Ser
ENST00000710365.1:c.101A>G (GLA) ENSP00000518234.1:p.Asn34Ser
ENST00000218516.4:c.101A>G (GLA) MANE Select ENSP00000218516.4:p.Asn34Ser
ENST00000466414.2:n.20A>G (GLA)
ENST00000468823.2:n.162A>G (GLA)
ENST00000479445.2:n.99A>G (GLA)
ENST00000480513.6:c.101A>G (GLA) ENSP00000497055.1:p.Asn34Ser
ENST00000486121.6:c.31A>G (GLA)
ENST00000649178.1:c.101A>G (GLA) ENSP00000498186.1:p.Asn34Ser
ENST00000674127.1:c.29A>G (GLA) ENSP00000501044.1:p.Asn10Ser
ENST00000674142.1:n.188A>G (GLA)
ENST00000674634.2:c.101A>G (GLA) ENSP00000502629.2:p.Asn34Ser
ENST00000675592.1:c.101A>G (GLA) ENSP00000502239.1:p.Asn34Ser
ENST00000675799.1:c.101A>G (GLA) ENSP00000502661.1:p.Asn34Ser
ENST00000675968.1:n.162A>G (GLA)
ENST00000676156.1:c.101A>G (GLA) ENSP00000501730.1:p.Asn34Ser
ENST00000676372.1:c.101A>G (GLA) ENSP00000502805.1:p.Asn34Ser
ENST00000218516.3:c.101A>G (GLA) ENSP00000218516.3:p.Asn34Ser
ENST00000409170.3:c.301-4133T>C (RPL36A-HNRNPH2) ENSP00000386655.4:n.301-4133T>C
ENST00000409338.5:c.178-4133T>C (RPL36A-HNRNPH2) ENSP00000386974.2:n.178-4133T>C
ENST00000479445.1:n.85A>G (GLA)
ENST00000480513.5:n.31A>G (GLA)
ENST00000486121.5:n.31A>G (GLA)
ENST00000493905.6:c.101A>G (GLA) ENSP00000476935.1:p.Asn34Ser
NM_000169.2:c.101A>G , LRG_672t1:c.101A>G (GLA) NP_000160.1:p.Asn34Ser
NM_001199973.1:c.409-4133T>C (RPL36A-HNRNPH2) NP_001186902.1:n.409-4133T>C
NM_001199974.1:c.286-4133T>C (RPL36A-HNRNPH2) NP_001186903.1:n.286-4133T>C
XR_938397.1:n.129A>G (GLA)
XR_938397.2:n.150A>G (GLA)
NM_001199973.2:c.301-4133T>C (RPL36A-HNRNPH2) NP_001186902.2:n.301-4133T>C
NM_001199974.2:c.178-4133T>C (RPL36A-HNRNPH2) NP_001186903.2:n.178-4133T>C
NM_000169.3:c.101A>G (GLA) MANE Select NP_000160.1:p.Asn34Ser
NR_164783.1:n.123A>G (GLA)
Search 100 bp 5'
Search 100 bp 3'