Canonical Allele Identifier: CA386292373

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102147216G>A (hg19) ; chr12:g.101753438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753438G>A , CM000674.2:g.101753438G>A	GRCh38
NC_000012.11:g.102147216G>A , CM000674.1:g.102147216G>A	GRCh37
NC_000012.10:g.100671347G>A	NCBI36
NG_021243.1:g.82430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3536C>T MANE Select	ENSP00000299314.7:p.Pro1179Leu
ENST00000299314.11:c.3536C>T	ENSP00000299314.7:p.Pro1179Leu
ENST00000549738.5:c.434C>T	ENSP00000450161.1:n.434C>T
NM_024312.4:c.3536C>T	NP_077288.2:p.Pro1179Leu
XM_011538731.1:c.3455C>T	XP_011537033.1:p.Pro1152Leu
XM_011538731.2:c.3455C>T	XP_011537033.1:p.Pro1152Leu
XM_017019961.1:c.3320C>T	XP_016875450.1:p.Pro1107Leu
XM_017019962.2:c.2309C>T	XP_016875451.1:p.Pro770Leu
NM_024312.5:c.3536C>T MANE Select	NP_077288.2:p.Pro1179Leu