Canonical Allele Identifier: CA386304786

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179796T>G (hg19) ; chr12:g.101786018T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786018T>G , CM000674.2:g.101786018T>G	GRCh38
NC_000012.11:g.102179796T>G , CM000674.1:g.102179796T>G	GRCh37
NC_000012.10:g.100703927T>G	NCBI36
NG_021243.1:g.49850A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.565A>C MANE Select	ENSP00000299314.7:p.Lys189Gln
ENST00000299314.11:c.565A>C	ENSP00000299314.7:p.Lys189Gln
ENST00000549940.5:c.565A>C	ENSP00000449150.1:p.Lys189Gln
ENST00000550352.1:n.359A>C
ENST00000552681.1:c.199A>C	ENSP00000449217.1:p.Lys67Gln
NM_024312.4:c.565A>C	NP_077288.2:p.Lys189Gln
XM_006719593.2:c.565A>C	XP_006719656.1:p.Lys189Gln
XM_011538731.1:c.484A>C	XP_011537033.1:p.Lys162Gln
XM_006719593.3:c.565A>C	XP_006719656.1:p.Lys189Gln
XM_011538731.2:c.484A>C	XP_011537033.1:p.Lys162Gln
XM_017019961.1:c.349A>C	XP_016875450.1:p.Lys117Gln
XM_017019962.2:c.-786A>C	XP_016875451.1:n.-786A>C
NM_024312.5:c.565A>C MANE Select	NP_077288.2:p.Lys189Gln