Canonical Allele Identifier: CA242454428

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1006106723
• gnomAD v3: 12-101761776-T-G
• gnomAD v4: 12-101761776-T-G
• MyVariant Identifiers: chr12:g.102155554T>G (hg19) ; chr12:g.101761776T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761776T>G , CM000674.2:g.101761776T>G	GRCh38
NC_000012.11:g.102155554T>G , CM000674.1:g.102155554T>G	GRCh37
NC_000012.10:g.100679685T>G	NCBI36
NG_021243.1:g.74092A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2716-13A>C MANE Select	ENSP00000299314.7:n.2716-13A>C
ENST00000299314.11:c.2716-13A>C	ENSP00000299314.7:n.2716-13A>C
NM_024312.4:c.2716-13A>C	NP_077288.2:n.2716-13A>C
XM_006719593.2:c.2716-13A>C	XP_006719656.1:n.2716-13A>C
XM_011538731.1:c.2635-13A>C	XP_011537033.1:n.2635-13A>C
XM_006719593.3:c.2716-13A>C	XP_006719656.1:n.2716-13A>C
XM_011538731.2:c.2635-13A>C	XP_011537033.1:n.2635-13A>C
XM_017019961.1:c.2500-13A>C	XP_016875450.1:n.2500-13A>C
XM_017019962.2:c.1489-13A>C	XP_016875451.1:n.1489-13A>C
NM_024312.5:c.2716-13A>C MANE Select	NP_077288.2:n.2716-13A>C