Canonical Allele Identifier: CA1141692

Gene: GBA1

Linked Data

• ClinVar Variation Id: 256874
• ClinVar RCV Id: RCV000248036
• dbSNP Id: rs558529804
• ExAC: 1:155207883 T / G
• gnomAD v2: 1-155207883-T-G
• gnomAD v3: 1-155238092-T-G
• gnomAD v4: 1-155238092-T-G
• MyVariant Identifiers: chr1:g.155207883T>G (hg19) ; chr1:g.155238092T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238092T>G , CM000663.2:g.155238092T>G	GRCh38
NC_000001.10:g.155207883T>G , CM000663.1:g.155207883T>G	GRCh37
NC_000001.9:g.153474507T>G	NCBI36
NG_009783.1:g.11606A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.761+42A>C MANE Select	ENSP00000357357.3:n.761+42A>C
ENST00000327247.9:c.761+42A>C	ENSP00000314508.5:n.761+42A>C
ENST00000368373.7:c.761+42A>C	ENSP00000357357.3:n.761+42A>C
ENST00000427500.7:c.614+42A>C	ENSP00000402577.2:n.614+42A>C
ENST00000428024.3:c.500+42A>C	ENSP00000397986.2:n.500+42A>C
ENST00000460156.1:n.590A>C
ENST00000484489.5:n.340-1804A>C
ENST00000491081.5:n.366+42A>C
ENST00000497670.5:n.384+42A>C
NM_000157.3:c.761+42A>C	NP_000148.2:n.761+42A>C
NM_001005741.2:c.761+42A>C	NP_001005741.1:n.761+42A>C
NM_001005742.2:c.761+42A>C	NP_001005742.1:n.761+42A>C
NM_001171811.1:c.500+42A>C	NP_001165282.1:n.500+42A>C
NM_001171812.1:c.614+42A>C	NP_001165283.1:n.614+42A>C
XM_006711270.1:c.761+42A>C	XP_006711333.1:n.761+42A>C
XM_011509407.1:c.761+42A>C	XP_011507709.1:n.761+42A>C
NM_000157.4:c.761+42A>C MANE Select	NP_000148.2:n.761+42A>C
NM_001005741.3:c.761+42A>C	NP_001005741.1:n.761+42A>C
NM_001005742.3:c.761+42A>C	NP_001005742.1:n.761+42A>C
NM_001171811.2:c.500+42A>C	NP_001165282.1:n.500+42A>C
NM_001171812.2:c.614+42A>C	NP_001165283.1:n.614+42A>C