Canonical Allele Identifier: CA386294831

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153887C>A (hg19) ; chr12:g.101760109C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760109C>A , CM000674.2:g.101760109C>A	GRCh38
NC_000012.11:g.102153887C>A , CM000674.1:g.102153887C>A	GRCh37
NC_000012.10:g.100678018C>A	NCBI36
NG_021243.1:g.75759G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3170G>T MANE Select	ENSP00000299314.7:p.Cys1057Phe
ENST00000299314.11:c.3170G>T	ENSP00000299314.7:p.Cys1057Phe
ENST00000549194.1:n.36G>T
NM_024312.4:c.3170G>T	NP_077288.2:p.Cys1057Phe
XM_006719593.2:c.3170G>T	XP_006719656.1:p.Cys1057Phe
XM_011538731.1:c.3089G>T	XP_011537033.1:p.Cys1030Phe
XM_006719593.3:c.3170G>T	XP_006719656.1:p.Cys1057Phe
XM_011538731.2:c.3089G>T	XP_011537033.1:p.Cys1030Phe
XM_017019961.1:c.2954G>T	XP_016875450.1:p.Cys985Phe
XM_017019962.2:c.1943G>T	XP_016875451.1:p.Cys648Phe
NM_024312.5:c.3170G>T MANE Select	NP_077288.2:p.Cys1057Phe