Canonical Allele Identifier: CA6746208

Gene: GNPTAB

Linked Data

• dbSNP Id: rs751206784
• ExAC: 12:102151425 G / C
• gnomAD v2: 12-102151425-G-C
• MyVariant Identifiers: chr12:g.102151425G>C (hg19) ; chr12:g.101757647G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757647G>C , CM000674.2:g.101757647G>C	GRCh38
NC_000012.11:g.102151425G>C , CM000674.1:g.102151425G>C	GRCh37
NC_000012.10:g.100675556G>C	NCBI36
NG_021243.1:g.78221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3260C>G MANE Select	ENSP00000299314.7:p.Thr1087Ser
ENST00000299314.11:c.3260C>G	ENSP00000299314.7:p.Thr1087Ser
ENST00000549194.1:n.126C>G
ENST00000549738.5:c.11C>G	ENSP00000450161.1:p.Thr4Ser
ENST00000550718.1:c.72C>G
NM_024312.4:c.3260C>G	NP_077288.2:p.Thr1087Ser
XM_006719593.2:c.3260C>G	XP_006719656.1:p.Thr1087Ser
XM_011538731.1:c.3179C>G	XP_011537033.1:p.Thr1060Ser
XM_006719593.3:c.3260C>G	XP_006719656.1:p.Thr1087Ser
XM_011538731.2:c.3179C>G	XP_011537033.1:p.Thr1060Ser
XM_017019961.1:c.3044C>G	XP_016875450.1:p.Thr1015Ser
XM_017019962.2:c.2033C>G	XP_016875451.1:p.Thr678Ser
NM_024312.5:c.3260C>G MANE Select	NP_077288.2:p.Thr1087Ser