Canonical Allele Identifier: CA1596249890
Gene: GABRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1757274337

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161847934A>G , CM000667.2:g.161847934A>G GRCh38
NC_000005.9:g.161274940A>G , CM000667.1:g.161274940A>G GRCh37
NC_000005.8:g.161207518A>G NCBI36
NG_011548.1:g.5744A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000635916.2:n.272A>G
ENST00000638112.1:c.-247-257A>G ENSP00000489839.1:n.-247-257A>G
ENST00000023897.10:c.-247-257A>G ENSP00000023897.6:n.-247-257A>G
ENST00000393943.9:c.-504A>G ENSP00000377517.4:n.-504A>G
ENST00000428797.7:c.-248+148A>G ENSP00000393097.2:n.-248+148A>G
ENST00000635096.1:c.-248+221A>G ENSP00000489033.1:n.-248+221A>G
NM_000806.5:c.-247-257A>G NP_000797.2:n.-247-257A>G
NM_001127643.1:c.-248+148A>G NP_001121115.1:n.-248+148A>G
NM_001127644.1:c.-504A>G NP_001121116.1:n.-504A>G
XR_941158.3:n.89+2586T>C
NM_001127643.2:c.-248+148A>G NP_001121115.1:n.-248+148A>G