Canonical Allele Identifier: CA362178921

Gene: GABRA1

Linked Data

• MyVariant Identifiers: chr5:g.161300235C>A (hg19) ; chr5:g.161873229C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161873229C>A , CM000667.2:g.161873229C>A	GRCh38
NC_000005.9:g.161300235C>A , CM000667.1:g.161300235C>A	GRCh37
NC_000005.8:g.161232813C>A	NCBI36
NG_011548.1:g.31039C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.368C>A MANE Select	ENSP00000377517.4:p.Thr123Asn
ENST00000635880.1:c.368C>A	ENSP00000489738.1:p.Thr123Asn
ENST00000635916.2:n.1143C>A
ENST00000636340.1:c.*217C>A	ENSP00000490002.1:n.*217C>A
ENST00000636408.1:n.172C>A
ENST00000636573.1:c.368C>A	ENSP00000490320.1:p.Thr123Asn
ENST00000637044.1:c.*142C>A	ENSP00000490684.1:n.*142C>A
ENST00000637827.1:c.368C>A	ENSP00000490804.1:p.Thr123Asn
ENST00000638112.1:c.368C>A	ENSP00000489839.1:p.Thr123Asn
ENST00000638159.1:c.413C>A	ENSP00000490360.1:p.Thr138Asn
ENST00000023897.10:c.368C>A	ENSP00000023897.6:p.Thr123Asn
ENST00000393943.9:c.368C>A	ENSP00000377517.4:p.Thr123Asn
ENST00000428797.7:c.368C>A	ENSP00000393097.2:p.Thr123Asn
ENST00000437025.6:c.368C>A	ENSP00000415441.2:p.Thr123Asn
ENST00000519542.1:n.132C>A
ENST00000519621.2:c.368C>A	ENSP00000430435.2:p.Thr123Asn
ENST00000634335.1:c.368C>A	ENSP00000489434.1:p.Thr123Asn
NM_000806.5:c.368C>A	NP_000797.2:p.Thr123Asn
NM_001127643.1:c.368C>A	NP_001121115.1:p.Thr123Asn
NM_001127644.1:c.368C>A	NP_001121116.1:p.Thr123Asn
NM_001127645.1:c.368C>A	NP_001121117.1:p.Thr123Asn
NM_001127648.1:c.368C>A	NP_001121120.1:p.Thr123Asn
NM_001127644.2:c.368C>A MANE Select	NP_001121116.1:p.Thr123Asn
NM_001127643.2:c.368C>A	NP_001121115.1:p.Thr123Asn
NM_001127645.2:c.368C>A	NP_001121117.1:p.Thr123Asn
NM_001127648.2:c.368C>A	NP_001121120.1:p.Thr123Asn