Canonical Allele Identifier: CA131081733
Gene: GABRA1 HGNC NCBI

Linked Data

dbSNP Id: rs972342421
gnomAD v2: 5-161275124-G-A
gnomAD v3: 5-161848118-G-A
gnomAD v4: 5-161848118-G-A
MyVariant Identifiers: chr5:g.161275124G>A (hg19) chr5:g.161848118G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161848118G>A , CM000667.2:g.161848118G>A GRCh38
NC_000005.9:g.161275124G>A , CM000667.1:g.161275124G>A GRCh37
NC_000005.8:g.161207702G>A NCBI36
NG_011548.1:g.5928G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000635916.2:n.456G>A
ENST00000638112.1:c.-247-73G>A ENSP00000489839.1:n.-247-73G>A
ENST00000023897.10:c.-247-73G>A ENSP00000023897.6:n.-247-73G>A
ENST00000393943.9:c.-320G>A ENSP00000377517.4:n.-320G>A
ENST00000428797.7:c.-247-73G>A ENSP00000393097.2:n.-247-73G>A
ENST00000635096.1:c.-247-73G>A ENSP00000489033.1:n.-247-73G>A
NM_000806.5:c.-247-73G>A NP_000797.2:n.-247-73G>A
NM_001127643.1:c.-247-73G>A NP_001121115.1:n.-247-73G>A
NM_001127644.1:c.-320G>A NP_001121116.1:n.-320G>A
XR_941158.3:n.89+2402C>T
NM_001127643.2:c.-247-73G>A NP_001121115.1:n.-247-73G>A
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