Canonical Allele Identifier: CA022038

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92565
• ClinVar RCV Id: RCV002477222
• dbSNP Id: rs398123220
• gnomAD v3: X-101398852-C-A
• gnomAD v4: X-101398852-C-A
• MyVariant Identifiers: chrX:g.100653840C>A (hg19) ; chrX:g.101398852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398852C>A , CM000685.2:g.101398852C>A	GRCh38
NC_000023.10:g.100653840C>A , CM000685.1:g.100653840C>A	GRCh37
NC_000023.9:g.100540496C>A	NCBI36
NG_007119.1:g.14112G>T , LRG_672:g.14112G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*180G>T (GLA)	ENSP00000501124.2:n.*180G>T
ENST00000674127.2:c.*237G>T (GLA)	ENSP00000501044.2:n.*237G>T
ENST00000710365.1:c.809G>T (GLA)	ENSP00000518234.1:p.Trp270Leu
ENST00000218516.4:c.734G>T (GLA) MANE Select	ENSP00000218516.4:p.Trp245Leu
ENST00000466414.2:n.653G>T (GLA)
ENST00000468823.2:n.1669G>T (GLA)
ENST00000479445.2:n.1131G>T (GLA)
ENST00000480513.6:c.*42G>T (GLA)	ENSP00000497055.1:n.*42G>T
ENST00000486121.6:c.779G>T (GLA)
ENST00000649178.1:c.857G>T (GLA)	ENSP00000498186.1:p.Trp286Leu
ENST00000674127.1:c.834G>T (GLA)	ENSP00000501044.1:n.834G>T
ENST00000674142.1:n.821G>T (GLA)
ENST00000674634.2:c.734G>T (GLA)	ENSP00000502629.2:p.Trp245Leu
ENST00000675592.1:c.734G>T (GLA)	ENSP00000502239.1:p.Trp245Leu
ENST00000675799.1:c.*42G>T (GLA)	ENSP00000502661.1:n.*42G>T
ENST00000675968.1:n.3388G>T (GLA)
ENST00000676156.1:c.698G>T (GLA)	ENSP00000501730.1:p.Trp233Leu
ENST00000676372.1:c.734G>T (GLA)	ENSP00000502805.1:p.Trp245Leu
ENST00000218516.3:c.734G>T (GLA)	ENSP00000218516.3:p.Trp245Leu
ENST00000409170.3:c.300+3395C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3395C>A
ENST00000409338.5:c.177+7030C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7030C>A
ENST00000468823.1:n.283G>T (GLA)
ENST00000480513.5:n.572G>T (GLA)
ENST00000493905.6:c.*122G>T (GLA)	ENSP00000476935.1:n.*122G>T
NM_000169.2:c.734G>T , LRG_672t1:c.734G>T (GLA)	NP_000160.1:p.Trp245Leu
NM_001199973.1:c.408+3395C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3395C>A
NM_001199974.1:c.285+7030C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7030C>A
XR_938397.1:n.819G>T (GLA)
XR_938397.2:n.840G>T (GLA)
NM_001199973.2:c.300+3395C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3395C>A
NM_001199974.2:c.177+7030C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7030C>A
NM_000169.3:c.734G>T (GLA) MANE Select	NP_000160.1:p.Trp245Leu
NR_164783.1:n.813G>T (GLA)