Canonical Allele Identifier: CA481320789

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102164361A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770583A>C , CM000674.2:g.101770583A>C	GRCh38
NC_000012.11:g.102164361A>C , CM000674.1:g.102164361A>C	GRCh37
NC_000012.10:g.100688492A>C	NCBI36
NG_021243.1:g.65285T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.936T>G MANE Select	ENSP00000299314.7:p.Ser312=
ENST00000299314.11:c.936T>G	ENSP00000299314.7:p.Ser312=
ENST00000549940.5:c.936T>G	ENSP00000449150.1:p.Ser312=
NM_024312.4:c.936T>G	NP_077288.2:p.Ser312=
XM_006719593.2:c.936T>G	XP_006719656.1:p.Ser312=
XM_011538731.1:c.855T>G	XP_011537033.1:p.Ser285=
XM_006719593.3:c.936T>G	XP_006719656.1:p.Ser312=
XM_011538731.2:c.855T>G	XP_011537033.1:p.Ser285=
XM_017019961.1:c.720T>G	XP_016875450.1:p.Ser240=
XM_017019962.2:c.-292T>G	XP_016875451.1:n.-292T>G
NM_024312.5:c.936T>G MANE Select	NP_077288.2:p.Ser312=