Canonical Allele Identifier: CA386303165

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102164262A>C (hg19) ; chr12:g.101770484A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1035T>G MANE Select	ENSP00000299314.7:p.Asn345Lys
ENST00000299314.11:c.1035T>G	ENSP00000299314.7:p.Asn345Lys
ENST00000549940.5:c.1035T>G	ENSP00000449150.1:p.Asn345Lys
NM_024312.4:c.1035T>G	NP_077288.2:p.Asn345Lys
XM_006719593.2:c.1035T>G	XP_006719656.1:p.Asn345Lys
XM_011538731.1:c.954T>G	XP_011537033.1:p.Asn318Lys
XM_006719593.3:c.1035T>G	XP_006719656.1:p.Asn345Lys
XM_011538731.2:c.954T>G	XP_011537033.1:p.Asn318Lys
XM_017019961.1:c.819T>G	XP_016875450.1:p.Asn273Lys
XM_017019962.2:c.-193T>G	XP_016875451.1:n.-193T>G
NM_024312.5:c.1035T>G MANE Select	NP_077288.2:p.Asn345Lys