Canonical Allele Identifier: CA386299856

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158929G>T (hg19) ; chr12:g.101765151G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101765151G>T , CM000674.2:g.101765151G>T	GRCh38
NC_000012.11:g.102158929G>T , CM000674.1:g.102158929G>T	GRCh37
NC_000012.10:g.100683060G>T	NCBI36
NG_021243.1:g.70717C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1766C>A MANE Select	ENSP00000299314.7:p.Ala589Asp
ENST00000299314.11:c.1766C>A	ENSP00000299314.7:p.Ala589Asp
NM_024312.4:c.1766C>A	NP_077288.2:p.Ala589Asp
XM_006719593.2:c.1766C>A	XP_006719656.1:p.Ala589Asp
XM_011538731.1:c.1685C>A	XP_011537033.1:p.Ala562Asp
XM_006719593.3:c.1766C>A	XP_006719656.1:p.Ala589Asp
XM_011538731.2:c.1685C>A	XP_011537033.1:p.Ala562Asp
XM_017019961.1:c.1550C>A	XP_016875450.1:p.Ala517Asp
XM_017019962.2:c.539C>A	XP_016875451.1:p.Ala180Asp
NM_024312.5:c.1766C>A MANE Select	NP_077288.2:p.Ala589Asp