Canonical Allele Identifier: CA386486876

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2440572
• ClinVar RCV Id: RCV003143364
• MyVariant Identifiers: chr12:g.102224342C>A (hg19) ; chr12:g.101830564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830564C>A , CM000674.2:g.101830564C>A	GRCh38
NC_000012.11:g.102224342C>A , CM000674.1:g.102224342C>A	GRCh37
NC_000012.10:g.100748473C>A	NCBI36
NG_021243.1:g.5304G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.112G>T MANE Select	ENSP00000299314.7:p.Gly38Ter
ENST00000647144.1:n.100G>T
ENST00000299314.11:c.112G>T	ENSP00000299314.7:p.Gly38Ter
ENST00000392919.4:c.112G>T	ENSP00000376651.4:p.Gly38Ter
ENST00000549165.1:c.112G>T	ENSP00000450413.1:p.Gly38Ter
ENST00000549940.5:c.112G>T	ENSP00000449150.1:p.Gly38Ter
NM_024312.4:c.112G>T	NP_077288.2:p.Gly38Ter
XM_006719593.2:c.112G>T	XP_006719656.1:p.Gly38Ter
XM_006719593.3:c.112G>T	XP_006719656.1:p.Gly38Ter
XM_017019961.1:c.-100+62G>T	XP_016875450.1:n.-100+62G>T
XM_017019962.2:c.-1239G>T	XP_016875451.1:n.-1239G>T
NM_024312.5:c.112G>T MANE Select	NP_077288.2:p.Gly38Ter