Canonical Allele Identifier: CA386487105

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830672-G-T
• MyVariant Identifiers: chr12:g.102224450G>T (hg19) ; chr12:g.101830672G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830672G>T , CM000674.2:g.101830672G>T	GRCh38
NC_000012.11:g.102224450G>T , CM000674.1:g.102224450G>T	GRCh37
NC_000012.10:g.100748581G>T	NCBI36
NG_021243.1:g.5196C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.4C>A MANE Select	ENSP00000299314.7:p.Leu2Met
ENST00000299314.11:c.4C>A	ENSP00000299314.7:p.Leu2Met
ENST00000392919.4:c.4C>A	ENSP00000376651.4:p.Leu2Met
ENST00000549165.1:c.4C>A	ENSP00000450413.1:p.Leu2Met
ENST00000549940.5:c.4C>A	ENSP00000449150.1:p.Leu2Met
NM_024312.4:c.4C>A	NP_077288.2:p.Leu2Met
XM_006719593.2:c.4C>A	XP_006719656.1:p.Leu2Met
XM_006719593.3:c.4C>A	XP_006719656.1:p.Leu2Met
XM_017019961.1:c.-146C>A	XP_016875450.1:n.-146C>A
XM_017019962.2:c.-1347C>A	XP_016875451.1:n.-1347C>A
NM_024312.5:c.4C>A MANE Select	NP_077288.2:p.Leu2Met