Canonical Allele Identifier: CA029381

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs782099278
• ExAC: X:100653124 G / A
• gnomAD v2: X-100653124-G-A
• gnomAD v4: X-101398136-G-A
• MyVariant Identifiers: chrX:g.100653124G>A (hg19) ; chrX:g.101398136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398136G>A , CM000685.2:g.101398136G>A	GRCh38
NC_000023.10:g.100653124G>A , CM000685.1:g.100653124G>A	GRCh37
NC_000023.9:g.100539780G>A	NCBI36
NG_007119.1:g.14828C>T , LRG_672:g.14828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-37C>T (GLA)	ENSP00000501124.2:n.*446-37C>T
ENST00000674127.2:c.*503-37C>T (GLA)	ENSP00000501044.2:n.*503-37C>T
ENST00000710365.1:c.1075-37C>T (GLA)	ENSP00000518234.1:n.1075-37C>T
ENST00000218516.4:c.1000-37C>T (GLA) MANE Select	ENSP00000218516.4:n.1000-37C>T
ENST00000466414.2:n.1136-37C>T (GLA)
ENST00000468823.2:n.2385C>T (GLA)
ENST00000479445.2:n.1614-37C>T (GLA)
ENST00000480513.6:c.*308-37C>T (GLA)	ENSP00000497055.1:n.*308-37C>T
ENST00000486121.6:c.1045-37C>T (GLA)
ENST00000649178.1:c.1123-37C>T (GLA)	ENSP00000498186.1:n.1123-37C>T
ENST00000674127.1:c.1100-37C>T (GLA)	ENSP00000501044.1:n.1100-37C>T
ENST00000674142.1:n.1304-37C>T (GLA)
ENST00000675592.1:c.802-37C>T (GLA)	ENSP00000502239.1:n.802-37C>T
ENST00000675799.1:c.*525-37C>T (GLA)	ENSP00000502661.1:n.*525-37C>T
ENST00000675968.1:n.3871-37C>T (GLA)
ENST00000676156.1:c.964-37C>T (GLA)	ENSP00000501730.1:n.964-37C>T
ENST00000676372.1:c.1066-37C>T (GLA)	ENSP00000502805.1:n.1066-37C>T
ENST00000218516.3:c.1000-37C>T (GLA)	ENSP00000218516.3:n.1000-37C>T
ENST00000409170.3:c.300+2679G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2679G>A
ENST00000409338.5:c.177+6314G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6314G>A
ENST00000466414.1:n.326-37C>T (GLA)
ENST00000493905.6:c.*388-37C>T (GLA)	ENSP00000476935.1:n.*388-37C>T
NM_000169.2:c.1000-37C>T , LRG_672t1:c.1000-37C>T (GLA)	NP_000160.1:n.1000-37C>T
NM_001199973.1:c.408+2679G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2679G>A
NM_001199974.1:c.285+6314G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6314G>A
XR_938397.1:n.1085-37C>T (GLA)
XR_938397.2:n.1106-37C>T (GLA)
NM_001199973.2:c.300+2679G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2679G>A
NM_001199974.2:c.177+6314G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6314G>A
NM_000169.3:c.1000-37C>T (GLA) MANE Select	NP_000160.1:n.1000-37C>T
NR_164783.1:n.1079-37C>T (GLA)