Canonical Allele Identifier: CA607597894

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1248223070
• gnomAD v2: 12-102147112-C-A
• gnomAD v4: 12-101753334-C-A
• MyVariant Identifiers: chr12:g.102147112C>A (hg19) ; chr12:g.101753334C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753334C>A , CM000674.2:g.101753334C>A	GRCh38
NC_000012.11:g.102147112C>A , CM000674.1:g.102147112C>A	GRCh37
NC_000012.10:g.100671243C>A	NCBI36
NG_021243.1:g.82534G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3602+38G>T MANE Select	ENSP00000299314.7:n.3602+38G>T
ENST00000299314.11:c.3602+38G>T	ENSP00000299314.7:n.3602+38G>T
ENST00000549738.5:c.500+38G>T	ENSP00000450161.1:n.500+38G>T
NM_024312.4:c.3602+38G>T	NP_077288.2:n.3602+38G>T
XM_011538731.1:c.3521+38G>T	XP_011537033.1:n.3521+38G>T
XM_011538731.2:c.3521+38G>T	XP_011537033.1:n.3521+38G>T
XM_017019961.1:c.3386+38G>T	XP_016875450.1:n.3386+38G>T
XM_017019962.2:c.2375+38G>T	XP_016875451.1:n.2375+38G>T
NM_024312.5:c.3602+38G>T MANE Select	NP_077288.2:n.3602+38G>T