Canonical Allele Identifier: CA386294703

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153856C>G (hg19) ; chr12:g.101760078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760078C>G , CM000674.2:g.101760078C>G	GRCh38
NC_000012.11:g.102153856C>G , CM000674.1:g.102153856C>G	GRCh37
NC_000012.10:g.100677987C>G	NCBI36
NG_021243.1:g.75790G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3201G>C MANE Select	ENSP00000299314.7:p.Gln1067His
ENST00000299314.11:c.3201G>C	ENSP00000299314.7:p.Gln1067His
ENST00000549194.1:n.67G>C
ENST00000550718.1:c.13G>C
NM_024312.4:c.3201G>C	NP_077288.2:p.Gln1067His
XM_006719593.2:c.3201G>C	XP_006719656.1:p.Gln1067His
XM_011538731.1:c.3120G>C	XP_011537033.1:p.Gln1040His
XM_006719593.3:c.3201G>C	XP_006719656.1:p.Gln1067His
XM_011538731.2:c.3120G>C	XP_011537033.1:p.Gln1040His
XM_017019961.1:c.2985G>C	XP_016875450.1:p.Gln995His
XM_017019962.2:c.1974G>C	XP_016875451.1:p.Gln658His
NM_024312.5:c.3201G>C MANE Select	NP_077288.2:p.Gln1067His