Canonical Allele Identifier: CA028579

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.[155236376C>T;155238570C>G] , CM000663.2:g.[155236376C>T;155238570C>G]	GRCh38
NC_000001.10:g.[155206167C>T;155208361C>G] , CM000663.1:g.[155206167C>T;155208361C>G]	GRCh37
NC_000001.9:g.[153472791C>T;153474985C>G]	NCBI36
NG_009783.1:g.[11128G>C;13322G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.[535G>C;1093G>A] MANE Select	ENSP00000357357.3:p.[Asp179His;Glu365Lys]
ENST00000327247.9:c.[535G>C;1093G>A]	ENSP00000314508.5:p.[Asp179His;Glu365Lys]
ENST00000368373.7:c.[535G>C;1093G>A]	ENSP00000357357.3:p.[Asp179His;Glu365Lys]
ENST00000427500.7:c.[388G>C;946G>A]	ENSP00000402577.2:p.[Asp130His;Glu316Lys]
ENST00000428024.3:c.[274G>C;832G>A]	ENSP00000397986.2:p.[Asp92His;Glu278Lys]
ENST00000484489.5:n.[339+1403G>C;340-88G>A]
ENST00000491081.5:n.[140G>C;698G>A]
NM_000157.3:c.[535G>C;1093G>A]	NP_000148.2:p.[Asp179His;Glu365Lys]
NM_001005741.2:c.[535G>C;1093G>A]	NP_001005741.1:p.[Asp179His;Glu365Lys]
NM_001005742.2:c.[535G>C;1093G>A]	NP_001005742.1:p.[Asp179His;Glu365Lys]
NM_001171811.1:c.[274G>C;832G>A]	NP_001165282.1:p.[Asp92His;Glu278Lys]
NM_001171812.1:c.[388G>C;946G>A]	NP_001165283.1:p.[Asp130His;Glu316Lys]
XM_006711270.1:c.[535G>C;1093G>A]	XP_006711333.1:p.[Asp179His;Glu365Lys]
XM_011509407.1:c.[535G>C;1093G>A]	XP_011507709.1:p.[Asp179His;Glu365Lys]
NM_000157.4:c.[535G>C;1093G>A] MANE Select	NP_000148.2:p.[Asp179His;Glu365Lys]
NM_001005741.3:c.[535G>C;1093G>A]	NP_001005741.1:p.[Asp179His;Glu365Lys]
NM_001005742.3:c.[535G>C;1093G>A]	NP_001005742.1:p.[Asp179His;Glu365Lys]
NM_001171811.2:c.[274G>C;832G>A]	NP_001165282.1:p.[Asp92His;Glu278Lys]
NM_001171812.2:c.[388G>C;946G>A]	NP_001165283.1:p.[Asp130His;Glu316Lys]