Canonical Allele Identifier: CA607154389

Gene: GNPTAB

Linked Data

• dbSNP Id: rs747034689
• gnomAD v2: 12-102164766-T-C
• gnomAD v4: 12-101770988-T-C
• MyVariant Identifiers: chr12:g.102164766T>C (hg19) ; chr12:g.101770988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770988T>C , CM000674.2:g.101770988T>C	GRCh38
NC_000012.11:g.102164766T>C , CM000674.1:g.102164766T>C	GRCh37
NC_000012.10:g.100688897T>C	NCBI36
NG_021243.1:g.64880A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.933+8A>G MANE Select	ENSP00000299314.7:n.933+8A>G
ENST00000299314.11:c.933+8A>G	ENSP00000299314.7:n.933+8A>G
ENST00000549940.5:c.933+8A>G	ENSP00000449150.1:n.933+8A>G
NM_024312.4:c.933+8A>G	NP_077288.2:n.933+8A>G
XM_006719593.2:c.933+8A>G	XP_006719656.1:n.933+8A>G
XM_011538731.1:c.852+8A>G	XP_011537033.1:n.852+8A>G
XM_006719593.3:c.933+8A>G	XP_006719656.1:n.933+8A>G
XM_011538731.2:c.852+8A>G	XP_011537033.1:n.852+8A>G
XM_017019961.1:c.717+8A>G	XP_016875450.1:n.717+8A>G
XM_017019962.2:c.-418+8A>G	XP_016875451.1:n.-418+8A>G
NM_024312.5:c.933+8A>G MANE Select	NP_077288.2:n.933+8A>G