Canonical Allele Identifier: CA131081747

Gene: GABRA1

Linked Data

• dbSNP Id: rs997952091
• gnomAD v3: 5-161848295-G-C
• gnomAD v4: 5-161848295-G-C
• MyVariant Identifiers: chr5:g.161275301G>C (hg19) ; chr5:g.161848295G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848295G>C , CM000667.2:g.161848295G>C	GRCh38
NC_000005.9:g.161275301G>C , CM000667.1:g.161275301G>C	GRCh37
NC_000005.8:g.161207879G>C	NCBI36
NG_011548.1:g.6105G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.-143G>C MANE Select	ENSP00000377517.4:n.-143G>C
ENST00000635916.2:n.633G>C
ENST00000637044.1:c.-143G>C	ENSP00000490684.1:n.-143G>C
ENST00000638112.1:c.-143G>C	ENSP00000489839.1:n.-143G>C
ENST00000023897.10:c.-143G>C	ENSP00000023897.6:n.-143G>C
ENST00000393943.9:c.-143G>C	ENSP00000377517.4:n.-143G>C
ENST00000428797.7:c.-143G>C	ENSP00000393097.2:n.-143G>C
ENST00000635096.1:c.-143G>C	ENSP00000489033.1:n.-143G>C
NM_000806.5:c.-143G>C	NP_000797.2:n.-143G>C
NM_001127643.1:c.-143G>C	NP_001121115.1:n.-143G>C
NM_001127644.1:c.-143G>C	NP_001121116.1:n.-143G>C
XR_941158.3:n.89+2225C>G
NM_001127644.2:c.-143G>C MANE Select	NP_001121116.1:n.-143G>C
NM_001127643.2:c.-143G>C	NP_001121115.1:n.-143G>C