Canonical Allele Identifier: CA386299092

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158641G>A (hg19) ; chr12:g.101764863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764863G>A , CM000674.2:g.101764863G>A	GRCh38
NC_000012.11:g.102158641G>A , CM000674.1:g.102158641G>A	GRCh37
NC_000012.10:g.100682772G>A	NCBI36
NG_021243.1:g.71005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2054C>T MANE Select	ENSP00000299314.7:p.Ser685Leu
ENST00000299314.11:c.2054C>T	ENSP00000299314.7:p.Ser685Leu
NM_024312.4:c.2054C>T	NP_077288.2:p.Ser685Leu
XM_006719593.2:c.2054C>T	XP_006719656.1:p.Ser685Leu
XM_011538731.1:c.1973C>T	XP_011537033.1:p.Ser658Leu
XM_006719593.3:c.2054C>T	XP_006719656.1:p.Ser685Leu
XM_011538731.2:c.1973C>T	XP_011537033.1:p.Ser658Leu
XM_017019961.1:c.1838C>T	XP_016875450.1:p.Ser613Leu
XM_017019962.2:c.827C>T	XP_016875451.1:p.Ser276Leu
NM_024312.5:c.2054C>T MANE Select	NP_077288.2:p.Ser685Leu