Canonical Allele Identifier: CA361838318
Gene: GLRA1 HGNC NCBI

Linked Data

gnomAD v4: 5-151851599-A-G
MyVariant Identifiers: chr5:g.151231160A>G (hg19) chr5:g.151851599A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851599A>G , CM000667.2:g.151851599A>G GRCh38
NC_000005.9:g.151231160A>G , CM000667.1:g.151231160A>G GRCh37
NC_000005.8:g.151211353A>G NCBI36
NG_011764.1:g.78238T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.703T>C MANE Select ENSP00000274576.5:p.Phe235Leu
ENST00000274576.8:c.703T>C ENSP00000274576.4:p.Phe235Leu
ENST00000455880.2:c.703T>C ENSP00000411593.2:p.Phe235Leu
ENST00000462581.6:c.*461T>C ENSP00000430595.1:n.*461T>C
ENST00000471351.2:n.986T>C
NM_000171.3:c.703T>C NP_000162.2:p.Phe235Leu
NM_001146040.1:c.703T>C NP_001139512.1:p.Phe235Leu
NM_001292000.1:c.454T>C NP_001278929.1:p.Phe152Leu
XM_005268412.2:c.703T>C XP_005268469.1:p.Phe235Leu
NM_000171.4:c.703T>C MANE Select NP_000162.2:p.Phe235Leu
NM_001146040.2:c.703T>C NP_001139512.1:p.Phe235Leu
NM_001292000.2:c.454T>C NP_001278929.1:p.Phe152Leu
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