Canonical Allele Identifier: CA386293984

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151420T>G (hg19) ; chr12:g.101757642T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757642T>G , CM000674.2:g.101757642T>G	GRCh38
NC_000012.11:g.102151420T>G , CM000674.1:g.102151420T>G	GRCh37
NC_000012.10:g.100675551T>G	NCBI36
NG_021243.1:g.78226A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3265A>C MANE Select	ENSP00000299314.7:p.Ser1089Arg
ENST00000299314.11:c.3265A>C	ENSP00000299314.7:p.Ser1089Arg
ENST00000549194.1:n.131A>C
ENST00000549738.5:c.16A>C	ENSP00000450161.1:p.Ser6Arg
ENST00000550718.1:c.77A>C
NM_024312.4:c.3265A>C	NP_077288.2:p.Ser1089Arg
XM_006719593.2:c.3265A>C	XP_006719656.1:p.Ser1089Arg
XM_011538731.1:c.3184A>C	XP_011537033.1:p.Ser1062Arg
XM_006719593.3:c.3265A>C	XP_006719656.1:p.Ser1089Arg
XM_011538731.2:c.3184A>C	XP_011537033.1:p.Ser1062Arg
XM_017019961.1:c.3049A>C	XP_016875450.1:p.Ser1017Arg
XM_017019962.2:c.2038A>C	XP_016875451.1:p.Ser680Arg
NM_024312.5:c.3265A>C MANE Select	NP_077288.2:p.Ser1089Arg