Canonical Allele Identifier: CA386300233

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101765305C>G , CM000674.2:g.101765305C>G	GRCh38
NC_000012.11:g.102159083C>G , CM000674.1:g.102159083C>G	GRCh37
NC_000012.10:g.100683214C>G	NCBI36
NG_021243.1:g.70563G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1613-1G>C MANE Select	NP_077288.2:n.1613-1G>C
ENST00000299314.12:c.1613-1G>C MANE Select	ENSP00000299314.7:n.1613-1G>C
NM_024312.4:c.1613-1G>C	NP_077288.2:n.1613-1G>C
ENST00000299314.11:c.1613-1G>C	ENSP00000299314.7:n.1613-1G>C
XM_006719593.2:c.1613-1G>C	XP_006719656.1:n.1613-1G>C
XM_006719593.3:c.1613-1G>C	XP_006719656.1:n.1613-1G>C
XM_011538731.1:c.1532-1G>C	XP_011537033.1:n.1532-1G>C
XM_011538731.2:c.1532-1G>C	XP_011537033.1:n.1532-1G>C
XM_017019961.1:c.1397-1G>C	XP_016875450.1:n.1397-1G>C
XM_017019962.2:c.386-1G>C	XP_016875451.1:n.386-1G>C