Canonical Allele Identifier: CA352342
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

dbSNP Id: rs782720134

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101407946G>C , CM000685.2:g.101407946G>C GRCh38
NC_000023.10:g.100662934G>C , CM000685.1:g.100662934G>C GRCh37
NC_000023.9:g.100549590G>C NCBI36
NG_007119.1:g.5018C>G , LRG_672:g.5018C>G
NG_016327.1:g.4744G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000468823.2:n.19C>G (GLA)
ENST00000480513.6:c.-43C>G (GLA) ENSP00000497055.1:n.-43C>G
ENST00000674142.1:n.45C>G (GLA)
ENST00000675799.1:c.-43C>G (GLA) ENSP00000502661.1:n.-43C>G
ENST00000675968.1:n.19C>G (GLA)
ENST00000409170.3:c.301-3990G>C (RPL36A-HNRNPH2) ENSP00000386655.4:n.301-3990G>C
ENST00000409338.5:c.178-3990G>C (RPL36A-HNRNPH2) ENSP00000386974.2:n.178-3990G>C
NM_000169.2:c.-43C>G , LRG_672t1:c.-43C>G (GLA) NP_000160.1:n.-43C>G
NM_001199973.1:c.409-3990G>C (RPL36A-HNRNPH2) NP_001186902.1:n.409-3990G>C
NM_001199974.1:c.286-3990G>C (RPL36A-HNRNPH2) NP_001186903.1:n.286-3990G>C
XR_938397.2:n.7C>G (GLA)
NM_001199973.2:c.301-3990G>C (RPL36A-HNRNPH2) NP_001186902.2:n.301-3990G>C
NM_001199974.2:c.178-3990G>C (RPL36A-HNRNPH2) NP_001186903.2:n.178-3990G>C