Canonical Allele Identifier: CA386297523

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158027C>A (hg19) ; chr12:g.101764249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764249C>A , CM000674.2:g.101764249C>A	GRCh38
NC_000012.11:g.102158027C>A , CM000674.1:g.102158027C>A	GRCh37
NC_000012.10:g.100682158C>A	NCBI36
NG_021243.1:g.71619G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2668G>T MANE Select	ENSP00000299314.7:p.Gly890Cys
ENST00000299314.11:c.2668G>T	ENSP00000299314.7:p.Gly890Cys
NM_024312.4:c.2668G>T	NP_077288.2:p.Gly890Cys
XM_006719593.2:c.2668G>T	XP_006719656.1:p.Gly890Cys
XM_011538731.1:c.2587G>T	XP_011537033.1:p.Gly863Cys
XM_006719593.3:c.2668G>T	XP_006719656.1:p.Gly890Cys
XM_011538731.2:c.2587G>T	XP_011537033.1:p.Gly863Cys
XM_017019961.1:c.2452G>T	XP_016875450.1:p.Gly818Cys
XM_017019962.2:c.1441G>T	XP_016875451.1:p.Gly481Cys
NM_024312.5:c.2668G>T MANE Select	NP_077288.2:p.Gly890Cys