Canonical Allele Identifier: CA2058950569

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753451T= , CM000674.2:g.101753451T=	GRCh38
NC_000012.11:g.102147229T= , CM000674.1:g.102147229T=	GRCh37
NC_000012.10:g.100671360T=	NCBI36
NG_021243.1:g.82417A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3523A= MANE Select	ENSP00000299314.7:p.Met1175=
ENST00000299314.11:c.3523A=	ENSP00000299314.7:p.Met1175=
ENST00000549738.5:c.421A=	ENSP00000450161.1:n.421A=
NM_024312.4:c.3523A=	NP_077288.2:p.Met1175=
XM_011538731.1:c.3442A=	XP_011537033.1:p.Met1148=
XM_011538731.2:c.3442A=	XP_011537033.1:p.Met1148=
XM_017019961.1:c.3307A=	XP_016875450.1:p.Met1103=
XM_017019962.2:c.2296A=	XP_016875451.1:p.Met766=
NM_024312.5:c.3523A= MANE Select	NP_077288.2:p.Met1175=