Canonical Allele Identifier: CA386296106

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155354T>G (hg19) ; chr12:g.101761576T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761576T>G , CM000674.2:g.101761576T>G	GRCh38
NC_000012.11:g.102155354T>G , CM000674.1:g.102155354T>G	GRCh37
NC_000012.10:g.100679485T>G	NCBI36
NG_021243.1:g.74292A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2903A>C MANE Select	ENSP00000299314.7:p.Glu968Ala
ENST00000299314.11:c.2903A>C	ENSP00000299314.7:p.Glu968Ala
NM_024312.4:c.2903A>C	NP_077288.2:p.Glu968Ala
XM_006719593.2:c.2903A>C	XP_006719656.1:p.Glu968Ala
XM_011538731.1:c.2822A>C	XP_011537033.1:p.Glu941Ala
XM_006719593.3:c.2903A>C	XP_006719656.1:p.Glu968Ala
XM_011538731.2:c.2822A>C	XP_011537033.1:p.Glu941Ala
XM_017019961.1:c.2687A>C	XP_016875450.1:p.Glu896Ala
XM_017019962.2:c.1676A>C	XP_016875451.1:p.Glu559Ala
NM_024312.5:c.2903A>C MANE Select	NP_077288.2:p.Glu968Ala