Canonical Allele Identifier: CA481317982

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151034A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757256A>C , CM000674.2:g.101757256A>C	GRCh38
NC_000012.11:g.102151034A>C , CM000674.1:g.102151034A>C	GRCh37
NC_000012.10:g.100675165A>C	NCBI36
NG_021243.1:g.78612T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3390T>G MANE Select	ENSP00000299314.7:p.Val1130=
ENST00000299314.11:c.3390T>G	ENSP00000299314.7:p.Val1130=
ENST00000549194.1:n.256T>G
ENST00000549738.5:c.141T>G	ENSP00000450161.1:p.Val47=
ENST00000550718.1:c.202T>G
NM_024312.4:c.3390T>G	NP_077288.2:p.Val1130=
XM_006719593.2:c.3390T>G	XP_006719656.1:p.Val1130=
XM_011538731.1:c.3309T>G	XP_011537033.1:p.Val1103=
XM_006719593.3:c.3390T>G	XP_006719656.1:p.Val1130=
XM_011538731.2:c.3309T>G	XP_011537033.1:p.Val1103=
XM_017019961.1:c.3174T>G	XP_016875450.1:p.Val1058=
XM_017019962.2:c.2163T>G	XP_016875451.1:p.Val721=
NM_024312.5:c.3390T>G MANE Select	NP_077288.2:p.Val1130=