Canonical Allele Identifier: CA386305183

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179986C>A (hg19) ; chr12:g.101786208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786208C>A , CM000674.2:g.101786208C>A	GRCh38
NC_000012.11:g.102179986C>A , CM000674.1:g.102179986C>A	GRCh37
NC_000012.10:g.100704117C>A	NCBI36
NG_021243.1:g.49660G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.375G>T MANE Select	ENSP00000299314.7:p.Gln125His
ENST00000299314.11:c.375G>T	ENSP00000299314.7:p.Gln125His
ENST00000549940.5:c.375G>T	ENSP00000449150.1:p.Gln125His
ENST00000550352.1:n.169G>T
ENST00000552681.1:c.9G>T	ENSP00000449217.1:p.Gln3His
NM_024312.4:c.375G>T	NP_077288.2:p.Gln125His
XM_006719593.2:c.375G>T	XP_006719656.1:p.Gln125His
XM_011538731.1:c.294G>T	XP_011537033.1:p.Gln98His
XM_006719593.3:c.375G>T	XP_006719656.1:p.Gln125His
XM_011538731.2:c.294G>T	XP_011537033.1:p.Gln98His
XM_017019961.1:c.159G>T	XP_016875450.1:p.Gln53His
XM_017019962.2:c.-976G>T	XP_016875451.1:n.-976G>T
NM_024312.5:c.375G>T MANE Select	NP_077288.2:p.Gln125His