Canonical Allele Identifier: CA361838072

Gene: GLRA1

Linked Data

• MyVariant Identifiers: chr5:g.151231121T>G (hg19) ; chr5:g.151851560T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851560T>G , CM000667.2:g.151851560T>G	GRCh38
NC_000005.9:g.151231121T>G , CM000667.1:g.151231121T>G	GRCh37
NC_000005.8:g.151211314T>G	NCBI36
NG_011764.1:g.78277A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.742A>C MANE Select	ENSP00000274576.5:p.Met248Leu
ENST00000274576.8:c.742A>C	ENSP00000274576.4:p.Met248Leu
ENST00000455880.2:c.742A>C	ENSP00000411593.2:p.Met248Leu
ENST00000462581.6:c.*500A>C	ENSP00000430595.1:n.*500A>C
ENST00000471351.2:n.1025A>C
NM_000171.3:c.742A>C	NP_000162.2:p.Met248Leu
NM_001146040.1:c.742A>C	NP_001139512.1:p.Met248Leu
NM_001292000.1:c.493A>C	NP_001278929.1:p.Met165Leu
XM_005268412.2:c.742A>C	XP_005268469.1:p.Met248Leu
NM_000171.4:c.742A>C MANE Select	NP_000162.2:p.Met248Leu
NM_001146040.2:c.742A>C	NP_001139512.1:p.Met248Leu
NM_001292000.2:c.493A>C	NP_001278929.1:p.Met165Leu