Canonical Allele Identifier: CA386305633

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796675A>G , CM000674.2:g.101796675A>G	GRCh38
NC_000012.11:g.102190453A>G , CM000674.1:g.102190453A>G	GRCh37
NC_000012.10:g.100714584A>G	NCBI36
NG_021243.1:g.39193T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.203+2T>C MANE Select	NP_077288.2:n.203+2T>C
ENST00000299314.12:c.203+2T>C MANE Select	ENSP00000299314.7:n.203+2T>C
NM_024312.4:c.203+2T>C	NP_077288.2:n.203+2T>C
ENST00000299314.11:c.203+2T>C	ENSP00000299314.7:n.203+2T>C
ENST00000392919.4:c.203+2T>C	ENSP00000376651.4:n.203+2T>C
ENST00000549165.1:c.205T>C	ENSP00000450413.1:p.Ter69Gln
ENST00000549940.5:c.203+2T>C	ENSP00000449150.1:n.203+2T>C
ENST00000647144.1:n.323+2T>C
XM_006719593.2:c.203+2T>C	XP_006719656.1:n.203+2T>C
XM_006719593.3:c.203+2T>C	XP_006719656.1:n.203+2T>C
XM_011538731.1:c.122+2T>C	XP_011537033.1:n.122+2T>C
XM_011538731.2:c.122+2T>C	XP_011537033.1:n.122+2T>C
XM_017019961.1:c.-14+2T>C	XP_016875450.1:n.-14+2T>C
XM_017019962.2:c.-1148+2T>C	XP_016875451.1:n.-1148+2T>C