Canonical Allele Identifier: CA1596259228
Community Standard Title: NM_001127644.2(GABRA1):c.*470A=
Gene: GABRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161897892A= , CM000667.2:g.161897892A= GRCh38
NC_000005.9:g.161324898A= , CM000667.1:g.161324898A= GRCh37
NC_000005.8:g.161257476A= NCBI36
NG_011548.1:g.55702A=

Transcript Alleles

HGVS Amino-acid Change
NM_001127644.2:c.*470A= MANE Select NP_001121116.1:n.*470A=
ENST00000393943.10:c.*470A= MANE Select ENSP00000377517.4:n.*470A=
NM_000806.5:c.*470A= NP_000797.2:n.*470A=
NM_001127643.1:c.*470A= NP_001121115.1:n.*470A=
NM_001127643.2:c.*470A= NP_001121115.1:n.*470A=
NM_001127644.1:c.*470A= NP_001121116.1:n.*470A=
NM_001127645.1:c.*470A= NP_001121117.1:n.*470A=
NM_001127645.2:c.*470A= NP_001121117.1:n.*470A=
NM_001127648.1:c.*470A= NP_001121120.1:n.*470A=
NM_001127648.2:c.*470A= NP_001121120.1:n.*470A=
ENST00000393943.9:c.*470A= ENSP00000377517.4:n.*470A=
ENST00000428797.7:c.*470A= ENSP00000393097.2:n.*470A=
ENST00000437025.6:c.*470A= ENSP00000415441.2:n.*470A=
ENST00000635916.2:n.4684A=
ENST00000636340.1:c.*1690A= ENSP00000490002.1:n.*1690A=
ENST00000636408.1:n.1645A=
ENST00000636573.1:c.*470A= ENSP00000490320.1:n.*470A=
ENST00000637044.1:c.*1615A= ENSP00000490684.1:n.*1615A=
ENST00000638112.1:c.*470A= ENSP00000489839.1:n.*470A=
ENST00000638159.1:c.*470A= ENSP00000490360.1:n.*470A=