Canonical Allele Identifier: CA2620448977

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830462-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830462T>C , CM000674.2:g.101830462T>C	GRCh38
NC_000012.11:g.102224240T>C , CM000674.1:g.102224240T>C	GRCh37
NC_000012.10:g.100748371T>C	NCBI36
NG_021243.1:g.5406A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.117+97A>G MANE Select	ENSP00000299314.7:n.117+97A>G
ENST00000647144.1:n.105+97A>G
ENST00000299314.11:c.117+97A>G	ENSP00000299314.7:n.117+97A>G
ENST00000392919.4:c.117+97A>G	ENSP00000376651.4:n.117+97A>G
ENST00000549165.1:c.117+97A>G	ENSP00000450413.1:n.117+97A>G
ENST00000549940.5:c.117+97A>G	ENSP00000449150.1:n.117+97A>G
NM_024312.4:c.117+97A>G	NP_077288.2:n.117+97A>G
XM_006719593.2:c.117+97A>G	XP_006719656.1:n.117+97A>G
XM_006719593.3:c.117+97A>G	XP_006719656.1:n.117+97A>G
XM_017019961.1:c.-100+164A>G	XP_016875450.1:n.-100+164A>G
XM_017019962.2:c.-1234+97A>G	XP_016875451.1:n.-1234+97A>G
NM_024312.5:c.117+97A>G MANE Select	NP_077288.2:n.117+97A>G