Canonical Allele Identifier: CA2741283239

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770401T>G , CM000674.2:g.101770401T>G	GRCh38
NC_000012.11:g.102164179T>G , CM000674.1:g.102164179T>G	GRCh37
NC_000012.10:g.100688310T>G	NCBI36
NG_021243.1:g.65467A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1113+5A>C MANE Select	ENSP00000299314.7:n.1113+5A>C
ENST00000299314.11:c.1113+5A>C	ENSP00000299314.7:n.1113+5A>C
ENST00000549940.5:c.1113+5A>C	ENSP00000449150.1:n.1113+5A>C
NM_024312.4:c.1113+5A>C	NP_077288.2:n.1113+5A>C
XM_006719593.2:c.1113+5A>C	XP_006719656.1:n.1113+5A>C
XM_011538731.1:c.1032+5A>C	XP_011537033.1:n.1032+5A>C
XM_006719593.3:c.1113+5A>C	XP_006719656.1:n.1113+5A>C
XM_011538731.2:c.1032+5A>C	XP_011537033.1:n.1032+5A>C
XM_017019961.1:c.897+5A>C	XP_016875450.1:n.897+5A>C
XM_017019962.2:c.-115+5A>C	XP_016875451.1:n.-115+5A>C
NM_024312.5:c.1113+5A>C MANE Select	NP_077288.2:n.1113+5A>C