Canonical Allele Identifier: CA6746737

Gene: GNPTAB

Linked Data

• dbSNP Id: rs780940504
• ExAC: 12:102164288 C / G
• gnomAD v2: 12-102164288-C-G
• gnomAD v3: 12-101770510-C-G
• gnomAD v4: 12-101770510-C-G
• MyVariant Identifiers: chr12:g.102164288C>G (hg19) ; chr12:g.101770510C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770510C>G , CM000674.2:g.101770510C>G	GRCh38
NC_000012.11:g.102164288C>G , CM000674.1:g.102164288C>G	GRCh37
NC_000012.10:g.100688419C>G	NCBI36
NG_021243.1:g.65358G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1009G>C MANE Select	ENSP00000299314.7:p.Glu337Gln
ENST00000299314.11:c.1009G>C	ENSP00000299314.7:p.Glu337Gln
ENST00000549940.5:c.1009G>C	ENSP00000449150.1:p.Glu337Gln
NM_024312.4:c.1009G>C	NP_077288.2:p.Glu337Gln
XM_006719593.2:c.1009G>C	XP_006719656.1:p.Glu337Gln
XM_011538731.1:c.928G>C	XP_011537033.1:p.Glu310Gln
XM_006719593.3:c.1009G>C	XP_006719656.1:p.Glu337Gln
XM_011538731.2:c.928G>C	XP_011537033.1:p.Glu310Gln
XM_017019961.1:c.793G>C	XP_016875450.1:p.Glu265Gln
XM_017019962.2:c.-219G>C	XP_016875451.1:n.-219G>C
NM_024312.5:c.1009G>C MANE Select	NP_077288.2:p.Glu337Gln