Canonical Allele Identifier: CA481317980

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151031A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757253A>G , CM000674.2:g.101757253A>G	GRCh38
NC_000012.11:g.102151031A>G , CM000674.1:g.102151031A>G	GRCh37
NC_000012.10:g.100675162A>G	NCBI36
NG_021243.1:g.78615T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3393T>C MANE Select	ENSP00000299314.7:p.Ser1131=
ENST00000299314.11:c.3393T>C	ENSP00000299314.7:p.Ser1131=
ENST00000549194.1:n.259T>C
ENST00000549738.5:c.144T>C	ENSP00000450161.1:p.Ser48=
ENST00000550718.1:c.205T>C
NM_024312.4:c.3393T>C	NP_077288.2:p.Ser1131=
XM_006719593.2:c.3393T>C	XP_006719656.1:p.Ser1131=
XM_011538731.1:c.3312T>C	XP_011537033.1:p.Ser1104=
XM_006719593.3:c.3393T>C	XP_006719656.1:p.Ser1131=
XM_011538731.2:c.3312T>C	XP_011537033.1:p.Ser1104=
XM_017019961.1:c.3177T>C	XP_016875450.1:p.Ser1059=
XM_017019962.2:c.2166T>C	XP_016875451.1:p.Ser722=
NM_024312.5:c.3393T>C MANE Select	NP_077288.2:p.Ser1131=