Canonical Allele Identifier: CA30895551

Gene: GBA1

Linked Data

• dbSNP Id: rs76682322
• MyVariant Identifiers: chr1:g.155208014G>A (hg19) ; chr1:g.155238223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238223G>A , CM000663.2:g.155238223G>A	GRCh38
NC_000001.10:g.155208014G>A , CM000663.1:g.155208014G>A	GRCh37
NC_000001.9:g.153474638G>A	NCBI36
NG_009783.1:g.11475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.672C>T MANE Select	ENSP00000357357.3:p.Leu224=
ENST00000327247.9:c.672C>T	ENSP00000314508.5:p.Leu224=
ENST00000368373.7:c.672C>T	ENSP00000357357.3:p.Leu224=
ENST00000427500.7:c.525C>T	ENSP00000402577.2:p.Leu175=
ENST00000428024.3:c.411C>T	ENSP00000397986.2:p.Leu137=
ENST00000460156.1:n.459C>T
ENST00000484489.5:n.339+1750C>T
ENST00000491081.5:n.277C>T
ENST00000493842.5:n.1010C>T
ENST00000497670.5:n.295C>T
NM_000157.3:c.672C>T	NP_000148.2:p.Leu224=
NM_001005741.2:c.672C>T	NP_001005741.1:p.Leu224=
NM_001005742.2:c.672C>T	NP_001005742.1:p.Leu224=
NM_001171811.1:c.411C>T	NP_001165282.1:p.Leu137=
NM_001171812.1:c.525C>T	NP_001165283.1:p.Leu175=
XM_006711270.1:c.672C>T	XP_006711333.1:p.Leu224=
XM_011509407.1:c.672C>T	XP_011507709.1:p.Leu224=
NM_000157.4:c.672C>T MANE Select	NP_000148.2:p.Leu224=
NM_001005741.3:c.672C>T	NP_001005741.1:p.Leu224=
NM_001005742.3:c.672C>T	NP_001005742.1:p.Leu224=
NM_001171811.2:c.411C>T	NP_001165282.1:p.Leu137=
NM_001171812.2:c.525C>T	NP_001165283.1:p.Leu175=