Canonical Allele Identifier: CA481320731

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102164262A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770484A>G , CM000674.2:g.101770484A>G	GRCh38
NC_000012.11:g.102164262A>G , CM000674.1:g.102164262A>G	GRCh37
NC_000012.10:g.100688393A>G	NCBI36
NG_021243.1:g.65384T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1035T>C MANE Select	ENSP00000299314.7:p.Asn345=
ENST00000299314.11:c.1035T>C	ENSP00000299314.7:p.Asn345=
ENST00000549940.5:c.1035T>C	ENSP00000449150.1:p.Asn345=
NM_024312.4:c.1035T>C	NP_077288.2:p.Asn345=
XM_006719593.2:c.1035T>C	XP_006719656.1:p.Asn345=
XM_011538731.1:c.954T>C	XP_011537033.1:p.Asn318=
XM_006719593.3:c.1035T>C	XP_006719656.1:p.Asn345=
XM_011538731.2:c.954T>C	XP_011537033.1:p.Asn318=
XM_017019961.1:c.819T>C	XP_016875450.1:p.Asn273=
XM_017019962.2:c.-193T>C	XP_016875451.1:n.-193T>C
NM_024312.5:c.1035T>C MANE Select	NP_077288.2:p.Asn345=