Canonical Allele Identifier: CA242447447

Gene: GNPTAB

Linked Data

• dbSNP Id: rs368835242
• gnomAD v2: 12-102147090-G-C
• gnomAD v3: 12-101753312-G-C
• gnomAD v4: 12-101753312-G-C
• MyVariant Identifiers: chr12:g.102147090G>C (hg19) ; chr12:g.101753312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753312G>C , CM000674.2:g.101753312G>C	GRCh38
NC_000012.11:g.102147090G>C , CM000674.1:g.102147090G>C	GRCh37
NC_000012.10:g.100671221G>C	NCBI36
NG_021243.1:g.82556C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3602+60C>G MANE Select	ENSP00000299314.7:n.3602+60C>G
ENST00000299314.11:c.3602+60C>G	ENSP00000299314.7:n.3602+60C>G
ENST00000549738.5:c.500+60C>G	ENSP00000450161.1:n.500+60C>G
NM_024312.4:c.3602+60C>G	NP_077288.2:n.3602+60C>G
XM_011538731.1:c.3521+60C>G	XP_011537033.1:n.3521+60C>G
XM_011538731.2:c.3521+60C>G	XP_011537033.1:n.3521+60C>G
XM_017019961.1:c.3386+60C>G	XP_016875450.1:n.3386+60C>G
XM_017019962.2:c.2375+60C>G	XP_016875451.1:n.2375+60C>G
NM_024312.5:c.3602+60C>G MANE Select	NP_077288.2:n.3602+60C>G