Canonical Allele Identifier: CA447226607
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1618571
ClinVar RCV Id: RCV002093997
dbSNP Id: rs772443569
gnomAD v2: 5-151202405-G-T
gnomAD v3: 5-151822844-G-T
gnomAD v4: 5-151822844-G-T
MyVariant Identifiers: chr5:g.151202405G>T (hg19) chr5:g.151822844G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822844G>T , CM000667.2:g.151822844G>T GRCh38
NC_000005.9:g.151202405G>T , CM000667.1:g.151202405G>T GRCh37
NC_000005.8:g.151182598G>T NCBI36
NG_011764.1:g.106993C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1179C>A MANE Select ENSP00000274576.5:p.Pro393=
ENST00000274576.8:c.1179C>A ENSP00000274576.4:p.Pro393=
ENST00000455880.2:c.1203C>A ENSP00000411593.2:p.Pro401=
ENST00000462581.6:c.*937C>A ENSP00000430595.1:n.*937C>A
NM_000171.3:c.1179C>A NP_000162.2:p.Pro393=
NM_001146040.1:c.1203C>A NP_001139512.1:p.Pro401=
NM_001292000.1:c.930C>A NP_001278929.1:p.Pro310=
NM_000171.4:c.1179C>A MANE Select NP_000162.2:p.Pro393=
NM_001146040.2:c.1203C>A NP_001139512.1:p.Pro401=
NM_001292000.2:c.930C>A NP_001278929.1:p.Pro310=
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