Canonical Allele Identifier: CA361841616

Gene: GLRA1

Linked Data

• dbSNP Id: rs1246926244
• gnomAD v2: 5-151239451-G-A
• gnomAD v3: 5-151859890-G-A
• gnomAD v4: 5-151859890-G-A
• MyVariant Identifiers: chr5:g.151239451G>A (hg19) ; chr5:g.151859890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151859890G>A , CM000667.2:g.151859890G>A	GRCh38
NC_000005.9:g.151239451G>A , CM000667.1:g.151239451G>A	GRCh37
NC_000005.8:g.151219644G>A	NCBI36
NG_011764.1:g.69947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.371C>T MANE Select	ENSP00000274576.5:p.Pro124Leu
ENST00000274576.8:c.371C>T	ENSP00000274576.4:p.Pro124Leu
ENST00000455880.2:c.371C>T	ENSP00000411593.2:p.Pro124Leu
ENST00000462581.6:c.*129C>T	ENSP00000430595.1:n.*129C>T
ENST00000471351.2:n.654C>T
NM_000171.3:c.371C>T	NP_000162.2:p.Pro124Leu
NM_001146040.1:c.371C>T	NP_001139512.1:p.Pro124Leu
NM_001292000.1:c.122C>T	NP_001278929.1:p.Pro41Leu
XM_005268412.2:c.371C>T	XP_005268469.1:p.Pro124Leu
XR_002956230.1:n.229+1997G>A
NM_000171.4:c.371C>T MANE Select	NP_000162.2:p.Pro124Leu
NM_001146040.2:c.371C>T	NP_001139512.1:p.Pro124Leu
NM_001292000.2:c.122C>T	NP_001278929.1:p.Pro41Leu