Canonical Allele Identifier: CA352934

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312197
• gnomAD v4: X-101407942-C-T
• MyVariant Identifiers: chrX:g.100662930C>T (hg19) ; chrX:g.101407942C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407942C>T , CM000685.2:g.101407942C>T	GRCh38
NC_000023.10:g.100662930C>T , CM000685.1:g.100662930C>T	GRCh37
NC_000023.9:g.100549586C>T	NCBI36
NG_007119.1:g.5022G>A , LRG_672:g.5022G>A
NG_016327.1:g.4740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468823.2:n.23G>A (GLA)
ENST00000480513.6:c.-39G>A (GLA)	ENSP00000497055.1:n.-39G>A
ENST00000674142.1:n.49G>A (GLA)
ENST00000675799.1:c.-39G>A (GLA)	ENSP00000502661.1:n.-39G>A
ENST00000675968.1:n.23G>A (GLA)
ENST00000409170.3:c.301-3994C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-3994C>T
ENST00000409338.5:c.178-3994C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-3994C>T
NM_000169.2:c.-39G>A , LRG_672t1:c.-39G>A (GLA)	NP_000160.1:n.-39G>A
NM_001199973.1:c.409-3994C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.409-3994C>T
NM_001199974.1:c.286-3994C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.286-3994C>T
XR_938397.2:n.11G>A (GLA)
NM_001199973.2:c.301-3994C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.301-3994C>T
NM_001199974.2:c.178-3994C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.178-3994C>T