Canonical Allele Identifier: CA6747018

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830606A>C , CM000674.2:g.101830606A>C	GRCh38
NC_000012.11:g.102224384A>C , CM000674.1:g.102224384A>C	GRCh37
NC_000012.10:g.100748515A>C	NCBI36
NG_021243.1:g.5262T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.70T>G MANE Select	NP_077288.2:p.Phe24Val
ENST00000299314.12:c.70T>G MANE Select	ENSP00000299314.7:p.Phe24Val
NM_024312.4:c.70T>G	NP_077288.2:p.Phe24Val
ENST00000299314.11:c.70T>G	ENSP00000299314.7:p.Phe24Val
ENST00000392919.4:c.70T>G	ENSP00000376651.4:p.Phe24Val
ENST00000549165.1:c.70T>G	ENSP00000450413.1:p.Phe24Val
ENST00000549940.5:c.70T>G	ENSP00000449150.1:p.Phe24Val
ENST00000647144.1:n.58T>G
XM_006719593.2:c.70T>G	XP_006719656.1:p.Phe24Val
XM_006719593.3:c.70T>G	XP_006719656.1:p.Phe24Val
XM_017019961.1:c.-100+20T>G	XP_016875450.1:n.-100+20T>G
XM_017019962.2:c.-1281T>G	XP_016875451.1:n.-1281T>G