Canonical Allele Identifier: CA386304988

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179892G>A (hg19) ; chr12:g.101786114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786114G>A , CM000674.2:g.101786114G>A	GRCh38
NC_000012.11:g.102179892G>A , CM000674.1:g.102179892G>A	GRCh37
NC_000012.10:g.100704023G>A	NCBI36
NG_021243.1:g.49754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.469C>T MANE Select	ENSP00000299314.7:p.Leu157Phe
ENST00000299314.11:c.469C>T	ENSP00000299314.7:p.Leu157Phe
ENST00000549940.5:c.469C>T	ENSP00000449150.1:p.Leu157Phe
ENST00000550352.1:n.263C>T
ENST00000552681.1:c.103C>T	ENSP00000449217.1:p.Leu35Phe
NM_024312.4:c.469C>T	NP_077288.2:p.Leu157Phe
XM_006719593.2:c.469C>T	XP_006719656.1:p.Leu157Phe
XM_011538731.1:c.388C>T	XP_011537033.1:p.Leu130Phe
XM_006719593.3:c.469C>T	XP_006719656.1:p.Leu157Phe
XM_011538731.2:c.388C>T	XP_011537033.1:p.Leu130Phe
XM_017019961.1:c.253C>T	XP_016875450.1:p.Leu85Phe
XM_017019962.2:c.-882C>T	XP_016875451.1:n.-882C>T
NM_024312.5:c.469C>T MANE Select	NP_077288.2:p.Leu157Phe