Canonical Allele Identifier: CA386486858

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102224335A>G (hg19) ; chr12:g.101830557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830557A>G , CM000674.2:g.101830557A>G	GRCh38
NC_000012.11:g.102224335A>G , CM000674.1:g.102224335A>G	GRCh37
NC_000012.10:g.100748466A>G	NCBI36
NG_021243.1:g.5311T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.117+2T>C MANE Select	ENSP00000299314.7:n.117+2T>C
ENST00000647144.1:n.105+2T>C
ENST00000299314.11:c.117+2T>C	ENSP00000299314.7:n.117+2T>C
ENST00000392919.4:c.117+2T>C	ENSP00000376651.4:n.117+2T>C
ENST00000549165.1:c.117+2T>C	ENSP00000450413.1:n.117+2T>C
ENST00000549940.5:c.117+2T>C	ENSP00000449150.1:n.117+2T>C
NM_024312.4:c.117+2T>C	NP_077288.2:n.117+2T>C
XM_006719593.2:c.117+2T>C	XP_006719656.1:n.117+2T>C
XM_006719593.3:c.117+2T>C	XP_006719656.1:n.117+2T>C
XM_017019961.1:c.-100+69T>C	XP_016875450.1:n.-100+69T>C
XM_017019962.2:c.-1234+2T>C	XP_016875451.1:n.-1234+2T>C
NM_024312.5:c.117+2T>C MANE Select	NP_077288.2:n.117+2T>C