Canonical Allele Identifier: CA386487058

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102224428T>A (hg19) ; chr12:g.101830650T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830650T>A , CM000674.2:g.101830650T>A	GRCh38
NC_000012.11:g.102224428T>A , CM000674.1:g.102224428T>A	GRCh37
NC_000012.10:g.100748559T>A	NCBI36
NG_021243.1:g.5218A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.26A>T MANE Select	ENSP00000299314.7:p.Gln9Leu
ENST00000647144.1:n.14A>T
ENST00000299314.11:c.26A>T	ENSP00000299314.7:p.Gln9Leu
ENST00000392919.4:c.26A>T	ENSP00000376651.4:p.Gln9Leu
ENST00000549165.1:c.26A>T	ENSP00000450413.1:p.Gln9Leu
ENST00000549940.5:c.26A>T	ENSP00000449150.1:p.Gln9Leu
NM_024312.4:c.26A>T	NP_077288.2:p.Gln9Leu
XM_006719593.2:c.26A>T	XP_006719656.1:p.Gln9Leu
XM_006719593.3:c.26A>T	XP_006719656.1:p.Gln9Leu
XM_017019961.1:c.-124A>T	XP_016875450.1:n.-124A>T
XM_017019962.2:c.-1325A>T	XP_016875451.1:n.-1325A>T
NM_024312.5:c.26A>T MANE Select	NP_077288.2:p.Gln9Leu