Canonical Allele Identifier: CA386305764

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102190510G>C (hg19) ; chr12:g.101796732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796732G>C , CM000674.2:g.101796732G>C	GRCh38
NC_000012.11:g.102190510G>C , CM000674.1:g.102190510G>C	GRCh37
NC_000012.10:g.100714641G>C	NCBI36
NG_021243.1:g.39136C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.148C>G MANE Select	ENSP00000299314.7:p.His50Asp
ENST00000647144.1:n.268C>G
ENST00000299314.11:c.148C>G	ENSP00000299314.7:p.His50Asp
ENST00000392919.4:c.148C>G	ENSP00000376651.4:p.His50Asp
ENST00000549165.1:c.148C>G	ENSP00000450413.1:p.His50Asp
ENST00000549940.5:c.148C>G	ENSP00000449150.1:p.His50Asp
NM_024312.4:c.148C>G	NP_077288.2:p.His50Asp
XM_006719593.2:c.148C>G	XP_006719656.1:p.His50Asp
XM_011538731.1:c.67C>G	XP_011537033.1:p.His23Asp
XM_006719593.3:c.148C>G	XP_006719656.1:p.His50Asp
XM_011538731.2:c.67C>G	XP_011537033.1:p.His23Asp
XM_017019961.1:c.-69C>G	XP_016875450.1:n.-69C>G
XM_017019962.2:c.-1203C>G	XP_016875451.1:n.-1203C>G
NM_024312.5:c.148C>G MANE Select	NP_077288.2:p.His50Asp