Canonical Allele Identifier: CA362179197

Gene: GABRA1

Linked Data

• ClinVar Variation Id: 468875
• ClinVar RCV Id: RCV000536715
• dbSNP Id: rs1554085822
• MyVariant Identifiers: chr5:g.161302574T>G (hg19) ; chr5:g.161875568T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161875568T>G , CM000667.2:g.161875568T>G	GRCh38
NC_000005.9:g.161302574T>G , CM000667.1:g.161302574T>G	GRCh37
NC_000005.8:g.161235152T>G	NCBI36
NG_011548.1:g.33378T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.485T>G MANE Select	ENSP00000377517.4:p.Val162Gly
ENST00000635880.1:c.485T>G	ENSP00000489738.1:p.Val162Gly
ENST00000635916.2:n.1260T>G
ENST00000636340.1:c.*334T>G	ENSP00000490002.1:n.*334T>G
ENST00000636408.1:n.289T>G
ENST00000636573.1:c.485T>G	ENSP00000490320.1:p.Val162Gly
ENST00000637044.1:c.*259T>G	ENSP00000490684.1:n.*259T>G
ENST00000637827.1:c.485T>G	ENSP00000490804.1:p.Val162Gly
ENST00000638112.1:c.485T>G	ENSP00000489839.1:p.Val162Gly
ENST00000638159.1:c.530T>G	ENSP00000490360.1:p.Val177Gly
ENST00000023897.10:c.485T>G	ENSP00000023897.6:p.Val162Gly
ENST00000393943.9:c.485T>G	ENSP00000377517.4:p.Val162Gly
ENST00000428797.7:c.485T>G	ENSP00000393097.2:p.Val162Gly
ENST00000437025.6:c.485T>G	ENSP00000415441.2:p.Val162Gly
ENST00000519542.1:n.249T>G
ENST00000519621.2:c.485T>G	ENSP00000430435.2:p.Val162Gly
ENST00000634335.1:c.485T>G	ENSP00000489434.1:p.Val162Gly
NM_000806.5:c.485T>G	NP_000797.2:p.Val162Gly
NM_001127643.1:c.485T>G	NP_001121115.1:p.Val162Gly
NM_001127644.1:c.485T>G	NP_001121116.1:p.Val162Gly
NM_001127645.1:c.485T>G	NP_001121117.1:p.Val162Gly
NM_001127648.1:c.485T>G	NP_001121120.1:p.Val162Gly
NM_001127644.2:c.485T>G MANE Select	NP_001121116.1:p.Val162Gly
NM_001127643.2:c.485T>G	NP_001121115.1:p.Val162Gly
NM_001127645.2:c.485T>G	NP_001121117.1:p.Val162Gly
NM_001127648.2:c.485T>G	NP_001121120.1:p.Val162Gly