Canonical Allele Identifier: CA2676320817

Gene: GABRA1

Linked Data

• gnomAD v4: 5-161848192-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848192T>C , CM000667.2:g.161848192T>C	GRCh38
NC_000005.9:g.161275198T>C , CM000667.1:g.161275198T>C	GRCh37
NC_000005.8:g.161207776T>C	NCBI36
NG_011548.1:g.6002T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.-246T>C MANE Select	ENSP00000377517.4:n.-246T>C
ENST00000635916.2:n.530T>C
ENST00000638112.1:c.-246T>C	ENSP00000489839.1:n.-246T>C
ENST00000023897.10:c.-246T>C	ENSP00000023897.6:n.-246T>C
ENST00000393943.9:c.-246T>C	ENSP00000377517.4:n.-246T>C
ENST00000428797.7:c.-246T>C	ENSP00000393097.2:n.-246T>C
ENST00000635096.1:c.-246T>C	ENSP00000489033.1:n.-246T>C
NM_000806.5:c.-246T>C	NP_000797.2:n.-246T>C
NM_001127643.1:c.-246T>C	NP_001121115.1:n.-246T>C
NM_001127644.1:c.-246T>C	NP_001121116.1:n.-246T>C
XR_941158.3:n.89+2328A>G
NM_001127644.2:c.-246T>C MANE Select	NP_001121116.1:n.-246T>C
NM_001127643.2:c.-246T>C	NP_001121115.1:n.-246T>C