Canonical Allele Identifier: CA386303143

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102164257A>C (hg19) ; chr12:g.101770479A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770479A>C , CM000674.2:g.101770479A>C	GRCh38
NC_000012.11:g.102164257A>C , CM000674.1:g.102164257A>C	GRCh37
NC_000012.10:g.100688388A>C	NCBI36
NG_021243.1:g.65389T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1040T>G MANE Select	ENSP00000299314.7:p.Phe347Cys
ENST00000299314.11:c.1040T>G	ENSP00000299314.7:p.Phe347Cys
ENST00000549940.5:c.1040T>G	ENSP00000449150.1:p.Phe347Cys
NM_024312.4:c.1040T>G	NP_077288.2:p.Phe347Cys
XM_006719593.2:c.1040T>G	XP_006719656.1:p.Phe347Cys
XM_011538731.1:c.959T>G	XP_011537033.1:p.Phe320Cys
XM_006719593.3:c.1040T>G	XP_006719656.1:p.Phe347Cys
XM_011538731.2:c.959T>G	XP_011537033.1:p.Phe320Cys
XM_017019961.1:c.824T>G	XP_016875450.1:p.Phe275Cys
XM_017019962.2:c.-188T>G	XP_016875451.1:n.-188T>G
NM_024312.5:c.1040T>G MANE Select	NP_077288.2:p.Phe347Cys