Canonical Allele Identifier: CA386294616

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153827G>C (hg19) ; chr12:g.101760049G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760049G>C , CM000674.2:g.101760049G>C	GRCh38
NC_000012.11:g.102153827G>C , CM000674.1:g.102153827G>C	GRCh37
NC_000012.10:g.100677958G>C	NCBI36
NG_021243.1:g.75819C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3230C>G MANE Select	ENSP00000299314.7:p.Ser1077Cys
ENST00000299314.11:c.3230C>G	ENSP00000299314.7:p.Ser1077Cys
ENST00000549194.1:n.96C>G
ENST00000550718.1:c.42C>G
NM_024312.4:c.3230C>G	NP_077288.2:p.Ser1077Cys
XM_006719593.2:c.3230C>G	XP_006719656.1:p.Ser1077Cys
XM_011538731.1:c.3149C>G	XP_011537033.1:p.Ser1050Cys
XM_006719593.3:c.3230C>G	XP_006719656.1:p.Ser1077Cys
XM_011538731.2:c.3149C>G	XP_011537033.1:p.Ser1050Cys
XM_017019961.1:c.3014C>G	XP_016875450.1:p.Ser1005Cys
XM_017019962.2:c.2003C>G	XP_016875451.1:p.Ser668Cys
NM_024312.5:c.3230C>G MANE Select	NP_077288.2:p.Ser1077Cys