Canonical Allele Identifier: CA481347141

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830646G>C , CM000674.2:g.101830646G>C	GRCh38
NC_000012.11:g.102224424G>C , CM000674.1:g.102224424G>C	GRCh37
NC_000012.10:g.100748555G>C	NCBI36
NG_021243.1:g.5222C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.30C>G MANE Select	NP_077288.2:p.Thr10=
ENST00000299314.12:c.30C>G MANE Select	ENSP00000299314.7:p.Thr10=
NM_024312.4:c.30C>G	NP_077288.2:p.Thr10=
ENST00000299314.11:c.30C>G	ENSP00000299314.7:p.Thr10=
ENST00000392919.4:c.30C>G	ENSP00000376651.4:p.Thr10=
ENST00000549165.1:c.30C>G	ENSP00000450413.1:p.Thr10=
ENST00000549940.5:c.30C>G	ENSP00000449150.1:p.Thr10=
ENST00000647144.1:n.18C>G
XM_006719593.2:c.30C>G	XP_006719656.1:p.Thr10=
XM_006719593.3:c.30C>G	XP_006719656.1:p.Thr10=
XM_017019961.1:c.-120C>G	XP_016875450.1:n.-120C>G
XM_017019962.2:c.-1321C>G	XP_016875451.1:n.-1321C>G