Canonical Allele Identifier: CA386299015

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158605A>G (hg19) ; chr12:g.101764827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764827A>G , CM000674.2:g.101764827A>G	GRCh38
NC_000012.11:g.102158605A>G , CM000674.1:g.102158605A>G	GRCh37
NC_000012.10:g.100682736A>G	NCBI36
NG_021243.1:g.71041T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2090T>C MANE Select	ENSP00000299314.7:p.Leu697Pro
ENST00000299314.11:c.2090T>C	ENSP00000299314.7:p.Leu697Pro
NM_024312.4:c.2090T>C	NP_077288.2:p.Leu697Pro
XM_006719593.2:c.2090T>C	XP_006719656.1:p.Leu697Pro
XM_011538731.1:c.2009T>C	XP_011537033.1:p.Leu670Pro
XM_006719593.3:c.2090T>C	XP_006719656.1:p.Leu697Pro
XM_011538731.2:c.2009T>C	XP_011537033.1:p.Leu670Pro
XM_017019961.1:c.1874T>C	XP_016875450.1:p.Leu625Pro
XM_017019962.2:c.863T>C	XP_016875451.1:p.Leu288Pro
NM_024312.5:c.2090T>C MANE Select	NP_077288.2:p.Leu697Pro