Canonical Allele Identifier: CA2058953036

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761610T= , CM000674.2:g.101761610T=	GRCh38
NC_000012.11:g.102155388T= , CM000674.1:g.102155388T=	GRCh37
NC_000012.10:g.100679519T=	NCBI36
NG_021243.1:g.74258A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2869A= MANE Select	ENSP00000299314.7:p.Met957=
ENST00000299314.11:c.2869A=	ENSP00000299314.7:p.Met957=
NM_024312.4:c.2869A=	NP_077288.2:p.Met957=
XM_006719593.2:c.2869A=	XP_006719656.1:p.Met957=
XM_011538731.1:c.2788A=	XP_011537033.1:p.Met930=
XM_006719593.3:c.2869A=	XP_006719656.1:p.Met957=
XM_011538731.2:c.2788A=	XP_011537033.1:p.Met930=
XM_017019961.1:c.2653A=	XP_016875450.1:p.Met885=
XM_017019962.2:c.1642A=	XP_016875451.1:p.Met548=
NM_024312.5:c.2869A= MANE Select	NP_077288.2:p.Met957=