Canonical Allele Identifier: CA386293196

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151030G>C (hg19) ; chr12:g.101757252G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757252G>C , CM000674.2:g.101757252G>C	GRCh38
NC_000012.11:g.102151030G>C , CM000674.1:g.102151030G>C	GRCh37
NC_000012.10:g.100675161G>C	NCBI36
NG_021243.1:g.78616C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3394C>G MANE Select	ENSP00000299314.7:p.His1132Asp
ENST00000299314.11:c.3394C>G	ENSP00000299314.7:p.His1132Asp
ENST00000549194.1:n.260C>G
ENST00000549738.5:c.145C>G	ENSP00000450161.1:p.His49Asp
ENST00000550718.1:c.206C>G
NM_024312.4:c.3394C>G	NP_077288.2:p.His1132Asp
XM_006719593.2:c.3394C>G	XP_006719656.1:p.His1132Asp
XM_011538731.1:c.3313C>G	XP_011537033.1:p.His1105Asp
XM_006719593.3:c.3394C>G	XP_006719656.1:p.His1132Asp
XM_011538731.2:c.3313C>G	XP_011537033.1:p.His1105Asp
XM_017019961.1:c.3178C>G	XP_016875450.1:p.His1060Asp
XM_017019962.2:c.2167C>G	XP_016875451.1:p.His723Asp
NM_024312.5:c.3394C>G MANE Select	NP_077288.2:p.His1132Asp