Canonical Allele Identifier: CA386304912

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1278644752
• gnomAD v2: 12-102179857-G-T
• gnomAD v4: 12-101786079-G-T
• MyVariant Identifiers: chr12:g.102179857G>T (hg19) ; chr12:g.101786079G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786079G>T , CM000674.2:g.101786079G>T	GRCh38
NC_000012.11:g.102179857G>T , CM000674.1:g.102179857G>T	GRCh37
NC_000012.10:g.100703988G>T	NCBI36
NG_021243.1:g.49789C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.504C>A MANE Select	ENSP00000299314.7:p.Phe168Leu
ENST00000299314.11:c.504C>A	ENSP00000299314.7:p.Phe168Leu
ENST00000549940.5:c.504C>A	ENSP00000449150.1:p.Phe168Leu
ENST00000550352.1:n.298C>A
ENST00000552681.1:c.138C>A	ENSP00000449217.1:p.Phe46Leu
NM_024312.4:c.504C>A	NP_077288.2:p.Phe168Leu
XM_006719593.2:c.504C>A	XP_006719656.1:p.Phe168Leu
XM_011538731.1:c.423C>A	XP_011537033.1:p.Phe141Leu
XM_006719593.3:c.504C>A	XP_006719656.1:p.Phe168Leu
XM_011538731.2:c.423C>A	XP_011537033.1:p.Phe141Leu
XM_017019961.1:c.288C>A	XP_016875450.1:p.Phe96Leu
XM_017019962.2:c.-847C>A	XP_016875451.1:n.-847C>A
NM_024312.5:c.504C>A MANE Select	NP_077288.2:p.Phe168Leu