Canonical Allele Identifier: CA2058952822

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952993863
• gnomAD v4: 12-101761478-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761478T>C , CM000674.2:g.101761478T>C	GRCh38
NC_000012.11:g.102155256T>C , CM000674.1:g.102155256T>C	GRCh37
NC_000012.10:g.100679387T>C	NCBI36
NG_021243.1:g.74390A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2915+86A>G MANE Select	ENSP00000299314.7:n.2915+86A>G
ENST00000299314.11:c.2915+86A>G	ENSP00000299314.7:n.2915+86A>G
NM_024312.4:c.2915+86A>G	NP_077288.2:n.2915+86A>G
XM_006719593.2:c.2915+86A>G	XP_006719656.1:n.2915+86A>G
XM_011538731.1:c.2834+86A>G	XP_011537033.1:n.2834+86A>G
XM_006719593.3:c.2915+86A>G	XP_006719656.1:n.2915+86A>G
XM_011538731.2:c.2834+86A>G	XP_011537033.1:n.2834+86A>G
XM_017019961.1:c.2699+86A>G	XP_016875450.1:n.2699+86A>G
XM_017019962.2:c.1688+86A>G	XP_016875451.1:n.1688+86A>G
NM_024312.5:c.2915+86A>G MANE Select	NP_077288.2:n.2915+86A>G