Canonical Allele Identifier: CA386487028

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102224413A>T (hg19) ; chr12:g.101830635A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830635A>T , CM000674.2:g.101830635A>T	GRCh38
NC_000012.11:g.102224413A>T , CM000674.1:g.102224413A>T	GRCh37
NC_000012.10:g.100748544A>T	NCBI36
NG_021243.1:g.5233T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.41T>A MANE Select	ENSP00000299314.7:p.Leu14Gln
ENST00000647144.1:n.29T>A
ENST00000299314.11:c.41T>A	ENSP00000299314.7:p.Leu14Gln
ENST00000392919.4:c.41T>A	ENSP00000376651.4:p.Leu14Gln
ENST00000549165.1:c.41T>A	ENSP00000450413.1:p.Leu14Gln
ENST00000549940.5:c.41T>A	ENSP00000449150.1:p.Leu14Gln
NM_024312.4:c.41T>A	NP_077288.2:p.Leu14Gln
XM_006719593.2:c.41T>A	XP_006719656.1:p.Leu14Gln
XM_006719593.3:c.41T>A	XP_006719656.1:p.Leu14Gln
XM_017019961.1:c.-109T>A	XP_016875450.1:n.-109T>A
XM_017019962.2:c.-1310T>A	XP_016875451.1:n.-1310T>A
NM_024312.5:c.41T>A MANE Select	NP_077288.2:p.Leu14Gln