Canonical Allele Identifier: CA386304303

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780151C>G , CM000674.2:g.101780151C>G	GRCh38
NC_000012.11:g.102173929C>G , CM000674.1:g.102173929C>G	GRCh37
NC_000012.10:g.100698060C>G	NCBI36
NG_021243.1:g.55717G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.771+1G>C MANE Select	NP_077288.2:n.771+1G>C
ENST00000299314.12:c.771+1G>C MANE Select	ENSP00000299314.7:n.771+1G>C
NM_024312.4:c.771+1G>C	NP_077288.2:n.771+1G>C
ENST00000299314.11:c.771+1G>C	ENSP00000299314.7:n.771+1G>C
ENST00000549940.5:c.771+1G>C	ENSP00000449150.1:n.771+1G>C
ENST00000552681.1:c.406G>C	ENSP00000449217.1:p.Val136Leu
XM_006719593.2:c.771+1G>C	XP_006719656.1:n.771+1G>C
XM_006719593.3:c.771+1G>C	XP_006719656.1:n.771+1G>C
XM_011538731.1:c.690+1G>C	XP_011537033.1:n.690+1G>C
XM_011538731.2:c.690+1G>C	XP_011537033.1:n.690+1G>C
XM_017019961.1:c.555+1G>C	XP_016875450.1:n.555+1G>C
XM_017019962.2:c.-580+1G>C	XP_016875451.1:n.-580+1G>C