Canonical Allele Identifier: CA028618

Gene: GBA1

Linked Data

• PubMed: PMID:15690354

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.[155235727C>G;155237458A>C] , CM000663.2:g.[155235727C>G;155237458A>C]	GRCh38
NC_000001.10:g.[155205518C>G;155207249A>C] , CM000663.1:g.[155205518C>G;155207249A>C]	GRCh37
NC_000001.9:g.[153472142C>G;153473873A>C]	NCBI36
NG_009783.1:g.[12240T>G;13971G>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.[882T>G;1342G>C] MANE Select	ENSP00000357357.3:p.[His294Gln;Asp448His]
ENST00000327247.9:c.[882T>G;1342G>C]	ENSP00000314508.5:p.[His294Gln;Asp448His]
ENST00000368373.7:c.[882T>G;1342G>C]	ENSP00000357357.3:p.[His294Gln;Asp448His]
ENST00000427500.7:c.[735T>G;1195G>C]	ENSP00000402577.2:p.[His245Gln;Asp399His]
ENST00000428024.3:c.[621T>G;1081G>C]	ENSP00000397986.2:p.[His207Gln;Asp361His]
ENST00000484489.5:n.[340-1170T>G;501G>C]
NM_000157.3:c.[882T>G;1342G>C]	NP_000148.2:p.[His294Gln;Asp448His]
NM_001005741.2:c.[882T>G;1342G>C]	NP_001005741.1:p.[His294Gln;Asp448His]
NM_001005742.2:c.[882T>G;1342G>C]	NP_001005742.1:p.[His294Gln;Asp448His]
NM_001171811.1:c.[621T>G;1081G>C]	NP_001165282.1:p.[His207Gln;Asp361His]
NM_001171812.1:c.[735T>G;1195G>C]	NP_001165283.1:p.[His245Gln;Asp399His]
XM_006711270.1:c.[882T>G;1342G>C]	XP_006711333.1:p.[His294Gln;Asp448His]
XM_011509407.1:c.[882T>G;1342G>C]	XP_011507709.1:p.[His294Gln;Asp448His]
NM_000157.4:c.[882T>G;1342G>C] MANE Select	NP_000148.2:p.[His294Gln;Asp448His]
NM_001005741.3:c.[882T>G;1342G>C]	NP_001005741.1:p.[His294Gln;Asp448His]
NM_001005742.3:c.[882T>G;1342G>C]	NP_001005742.1:p.[His294Gln;Asp448His]
NM_001171811.2:c.[621T>G;1081G>C]	NP_001165282.1:p.[His207Gln;Asp361His]
NM_001171812.2:c.[735T>G;1195G>C]	NP_001165283.1:p.[His245Gln;Asp399His]