Canonical Allele Identifier: CA10636185

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 306825
• ClinVar RCV Id: RCV000324775 ; RCV000377041
• dbSNP Id: rs544455347
• gnomAD v2: 12-102224598-C-T
• gnomAD v3: 12-101830820-C-T
• gnomAD v4: 12-101830820-C-T
• MyVariant Identifiers: chr12:g.102224598C>T (hg19) ; chr12:g.101830820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830820C>T , CM000674.2:g.101830820C>T	GRCh38
NC_000012.11:g.102224598C>T , CM000674.1:g.102224598C>T	GRCh37
NC_000012.10:g.100748729C>T	NCBI36
NG_021243.1:g.5048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-145G>A MANE Select	ENSP00000299314.7:n.-145G>A
ENST00000299314.11:c.-145G>A	ENSP00000299314.7:n.-145G>A
ENST00000392919.4:c.-145G>A	ENSP00000376651.4:n.-145G>A
NM_024312.4:c.-145G>A	NP_077288.2:n.-145G>A
XM_006719593.2:c.-145G>A	XP_006719656.1:n.-145G>A
XM_017019961.1:c.-294G>A	XP_016875450.1:n.-294G>A
NM_024312.5:c.-145G>A MANE Select	NP_077288.2:n.-145G>A