Canonical Allele Identifier: CA481318910

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102154998A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761220A>G , CM000674.2:g.101761220A>G	GRCh38
NC_000012.11:g.102154998A>G , CM000674.1:g.102154998A>G	GRCh37
NC_000012.10:g.100679129A>G	NCBI36
NG_021243.1:g.74648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3042T>C MANE Select	ENSP00000299314.7:p.Phe1014=
ENST00000299314.11:c.3042T>C	ENSP00000299314.7:p.Phe1014=
NM_024312.4:c.3042T>C	NP_077288.2:p.Phe1014=
XM_006719593.2:c.3042T>C	XP_006719656.1:p.Phe1014=
XM_011538731.1:c.2961T>C	XP_011537033.1:p.Phe987=
XM_006719593.3:c.3042T>C	XP_006719656.1:p.Phe1014=
XM_011538731.2:c.2961T>C	XP_011537033.1:p.Phe987=
XM_017019961.1:c.2826T>C	XP_016875450.1:p.Phe942=
XM_017019962.2:c.1815T>C	XP_016875451.1:p.Phe605=
NM_024312.5:c.3042T>C MANE Select	NP_077288.2:p.Phe1014=