Canonical Allele Identifier: CA386305042

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1163302563
• MyVariant Identifiers: chr12:g.102179919T>C (hg19) ; chr12:g.101786141T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786141T>C , CM000674.2:g.101786141T>C	GRCh38
NC_000012.11:g.102179919T>C , CM000674.1:g.102179919T>C	GRCh37
NC_000012.10:g.100704050T>C	NCBI36
NG_021243.1:g.49727A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.442A>G MANE Select	ENSP00000299314.7:p.Asn148Asp
ENST00000299314.11:c.442A>G	ENSP00000299314.7:p.Asn148Asp
ENST00000549940.5:c.442A>G	ENSP00000449150.1:p.Asn148Asp
ENST00000550352.1:n.236A>G
ENST00000552681.1:c.76A>G	ENSP00000449217.1:p.Asn26Asp
NM_024312.4:c.442A>G	NP_077288.2:p.Asn148Asp
XM_006719593.2:c.442A>G	XP_006719656.1:p.Asn148Asp
XM_011538731.1:c.361A>G	XP_011537033.1:p.Asn121Asp
XM_006719593.3:c.442A>G	XP_006719656.1:p.Asn148Asp
XM_011538731.2:c.361A>G	XP_011537033.1:p.Asn121Asp
XM_017019961.1:c.226A>G	XP_016875450.1:p.Asn76Asp
XM_017019962.2:c.-909A>G	XP_016875451.1:n.-909A>G
NM_024312.5:c.442A>G MANE Select	NP_077288.2:p.Asn148Asp