Canonical Allele Identifier: CA362179034

Gene: GABRA1

Linked Data

• dbSNP Id: rs1163525530
• gnomAD v2: 5-161300283-T-C
• gnomAD v4: 5-161873277-T-C
• MyVariant Identifiers: chr5:g.161300283T>C (hg19) ; chr5:g.161873277T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161873277T>C , CM000667.2:g.161873277T>C	GRCh38
NC_000005.9:g.161300283T>C , CM000667.1:g.161300283T>C	GRCh37
NC_000005.8:g.161232861T>C	NCBI36
NG_011548.1:g.31087T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.416T>C MANE Select	ENSP00000377517.4:p.Met139Thr
ENST00000635880.1:c.416T>C	ENSP00000489738.1:p.Met139Thr
ENST00000635916.2:n.1191T>C
ENST00000636340.1:c.*265T>C	ENSP00000490002.1:n.*265T>C
ENST00000636408.1:n.220T>C
ENST00000636573.1:c.416T>C	ENSP00000490320.1:p.Met139Thr
ENST00000637044.1:c.*190T>C	ENSP00000490684.1:n.*190T>C
ENST00000637827.1:c.416T>C	ENSP00000490804.1:p.Met139Thr
ENST00000638112.1:c.416T>C	ENSP00000489839.1:p.Met139Thr
ENST00000638159.1:c.461T>C	ENSP00000490360.1:p.Met154Thr
ENST00000023897.10:c.416T>C	ENSP00000023897.6:p.Met139Thr
ENST00000393943.9:c.416T>C	ENSP00000377517.4:p.Met139Thr
ENST00000428797.7:c.416T>C	ENSP00000393097.2:p.Met139Thr
ENST00000437025.6:c.416T>C	ENSP00000415441.2:p.Met139Thr
ENST00000519542.1:n.180T>C
ENST00000519621.2:c.416T>C	ENSP00000430435.2:p.Met139Thr
ENST00000634335.1:c.416T>C	ENSP00000489434.1:p.Met139Thr
NM_000806.5:c.416T>C	NP_000797.2:p.Met139Thr
NM_001127643.1:c.416T>C	NP_001121115.1:p.Met139Thr
NM_001127644.1:c.416T>C	NP_001121116.1:p.Met139Thr
NM_001127645.1:c.416T>C	NP_001121117.1:p.Met139Thr
NM_001127648.1:c.416T>C	NP_001121120.1:p.Met139Thr
NM_001127644.2:c.416T>C MANE Select	NP_001121116.1:p.Met139Thr
NM_001127643.2:c.416T>C	NP_001121115.1:p.Met139Thr
NM_001127645.2:c.416T>C	NP_001121117.1:p.Met139Thr
NM_001127648.2:c.416T>C	NP_001121120.1:p.Met139Thr