Canonical Allele Identifier: CA131081740

Gene: GABRA1

Linked Data

• dbSNP Id: rs960154706
• gnomAD v3: 5-161848178-T-G
• gnomAD v4: 5-161848178-T-G
• MyVariant Identifiers: chr5:g.161275184T>G (hg19) ; chr5:g.161848178T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848178T>G , CM000667.2:g.161848178T>G	GRCh38
NC_000005.9:g.161275184T>G , CM000667.1:g.161275184T>G	GRCh37
NC_000005.8:g.161207762T>G	NCBI36
NG_011548.1:g.5988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.-260T>G MANE Select	ENSP00000377517.4:n.-260T>G
ENST00000635916.2:n.516T>G
ENST00000638112.1:c.-247-13T>G	ENSP00000489839.1:n.-247-13T>G
ENST00000023897.10:c.-247-13T>G	ENSP00000023897.6:n.-247-13T>G
ENST00000393943.9:c.-260T>G	ENSP00000377517.4:n.-260T>G
ENST00000428797.7:c.-247-13T>G	ENSP00000393097.2:n.-247-13T>G
ENST00000635096.1:c.-247-13T>G	ENSP00000489033.1:n.-247-13T>G
NM_000806.5:c.-247-13T>G	NP_000797.2:n.-247-13T>G
NM_001127643.1:c.-247-13T>G	NP_001121115.1:n.-247-13T>G
NM_001127644.1:c.-260T>G	NP_001121116.1:n.-260T>G
XR_941158.3:n.89+2342A>C
NM_001127644.2:c.-260T>G MANE Select	NP_001121116.1:n.-260T>G
NM_001127643.2:c.-247-13T>G	NP_001121115.1:n.-247-13T>G