Canonical Allele Identifier: CA10621167
Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 352583
ClinVar RCV Id: RCV000288765
dbSNP Id: rs11576000
gnomAD v2: 5-161274217-G-C
gnomAD v3: 5-161847211-G-C
gnomAD v4: 5-161847211-G-C
MyVariant Identifiers: chr5:g.161274217G>C (hg19) chr5:g.161847211G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161847211G>C , CM000667.2:g.161847211G>C GRCh38
NC_000005.9:g.161274217G>C , CM000667.1:g.161274217G>C GRCh37
NC_000005.8:g.161206795G>C NCBI36
NG_011548.1:g.5021G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000638112.1:c.-503G>C ENSP00000489839.1:n.-503G>C
ENST00000023897.10:c.-448G>C ENSP00000023897.6:n.-448G>C
NM_000806.5:c.-448G>C NP_000797.2:n.-448G>C
XR_941158.3:n.89+3309C>G
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