Canonical Allele Identifier: CA253079

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238144A>G , CM000663.2:g.155238144A>G	GRCh38
NC_000001.10:g.155207935A>G , CM000663.1:g.155207935A>G	GRCh37
NC_000001.9:g.153474559A>G	NCBI36
NG_009783.1:g.11554T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000157.4:c.751T>C MANE Select	NP_000148.2:p.Tyr251His
ENST00000368373.8:c.751T>C MANE Select	ENSP00000357357.3:p.Tyr251His
NM_000157.3:c.751T>C	NP_000148.2:p.Tyr251His
NM_001005741.2:c.751T>C	NP_001005741.1:p.Tyr251His
NM_001005741.3:c.751T>C	NP_001005741.1:p.Tyr251His
NM_001005742.2:c.751T>C	NP_001005742.1:p.Tyr251His
NM_001005742.3:c.751T>C	NP_001005742.1:p.Tyr251His
NM_001171811.1:c.490T>C	NP_001165282.1:p.Tyr164His
NM_001171811.2:c.490T>C	NP_001165282.1:p.Tyr164His
NM_001171812.1:c.604T>C	NP_001165283.1:p.Tyr202His
NM_001171812.2:c.604T>C	NP_001165283.1:p.Tyr202His
ENST00000327247.9:c.751T>C	ENSP00000314508.5:p.Tyr251His
ENST00000368373.7:c.751T>C	ENSP00000357357.3:p.Tyr251His
ENST00000427500.7:c.604T>C	ENSP00000402577.2:p.Tyr202His
ENST00000428024.3:c.490T>C	ENSP00000397986.2:p.Tyr164His
ENST00000460156.1:n.538T>C
ENST00000484489.5:n.339+1829T>C
ENST00000491081.5:n.356T>C
ENST00000497670.5:n.374T>C
XM_006711270.1:c.751T>C	XP_006711333.1:p.Tyr251His
XM_011509407.1:c.751T>C	XP_011507709.1:p.Tyr251His