Canonical Allele Identifier: CA2448301337

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs3027584

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407933C>A , CM000685.2:g.101407933C>A	GRCh38
NC_000023.10:g.100662921C>A , CM000685.1:g.100662921C>A	GRCh37
NC_000023.9:g.100549577C>A	NCBI36
NG_007119.1:g.5031G>T , LRG_672:g.5031G>T
NG_016327.1:g.4731C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468823.2:n.32G>T (GLA)
ENST00000480513.6:c.-30G>T (GLA)	ENSP00000497055.1:n.-30G>T
ENST00000674142.1:n.58G>T (GLA)
ENST00000675799.1:c.-30G>T (GLA)	ENSP00000502661.1:n.-30G>T
ENST00000675968.1:n.32G>T (GLA)
ENST00000409170.3:c.301-4003C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4003C>A
ENST00000409338.5:c.178-4003C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4003C>A
NM_000169.2:c.-30G>T , LRG_672t1:c.-30G>T (GLA)	NP_000160.1:n.-30G>T
NM_001199973.1:c.409-4003C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4003C>A
NM_001199974.1:c.286-4003C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4003C>A
XR_938397.2:n.20G>T (GLA)
NM_001199973.2:c.301-4003C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4003C>A
NM_001199974.2:c.178-4003C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4003C>A