Canonical Allele Identifier: CA682765798

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1264651970
• gnomAD v3: 12-101830718-C-A
• gnomAD v4: 12-101830718-C-A
• MyVariant Identifiers: chr12:g.102224496C>A (hg19) ; chr12:g.101830718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830718C>A , CM000674.2:g.101830718C>A	GRCh38
NC_000012.11:g.102224496C>A , CM000674.1:g.102224496C>A	GRCh37
NC_000012.10:g.100748627C>A	NCBI36
NG_021243.1:g.5150G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-43G>T MANE Select	ENSP00000299314.7:n.-43G>T
ENST00000299314.11:c.-43G>T	ENSP00000299314.7:n.-43G>T
ENST00000392919.4:c.-43G>T	ENSP00000376651.4:n.-43G>T
ENST00000549940.5:c.-43G>T	ENSP00000449150.1:n.-43G>T
NM_024312.4:c.-43G>T	NP_077288.2:n.-43G>T
XM_006719593.2:c.-43G>T	XP_006719656.1:n.-43G>T
XM_006719593.3:c.-43G>T	XP_006719656.1:n.-43G>T
XM_017019961.1:c.-192G>T	XP_016875450.1:n.-192G>T
XM_017019962.2:c.-1393G>T	XP_016875451.1:n.-1393G>T
NM_024312.5:c.-43G>T MANE Select	NP_077288.2:n.-43G>T