Canonical Allele Identifier: CA2620427347

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101757565-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757565T>C , CM000674.2:g.101757565T>C	GRCh38
NC_000012.11:g.102151343T>C , CM000674.1:g.102151343T>C	GRCh37
NC_000012.10:g.100675474T>C	NCBI36
NG_021243.1:g.78303A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335+7A>G MANE Select	ENSP00000299314.7:n.3335+7A>G
ENST00000299314.11:c.3335+7A>G	ENSP00000299314.7:n.3335+7A>G
ENST00000549194.1:n.201+7A>G
ENST00000549738.5:c.86+7A>G	ENSP00000450161.1:n.86+7A>G
ENST00000550718.1:c.147+7A>G
NM_024312.4:c.3335+7A>G	NP_077288.2:n.3335+7A>G
XM_006719593.2:c.3335+7A>G	XP_006719656.1:n.3335+7A>G
XM_011538731.1:c.3254+7A>G	XP_011537033.1:n.3254+7A>G
XM_006719593.3:c.3335+7A>G	XP_006719656.1:n.3335+7A>G
XM_011538731.2:c.3254+7A>G	XP_011537033.1:n.3254+7A>G
XM_017019961.1:c.3119+7A>G	XP_016875450.1:n.3119+7A>G
XM_017019962.2:c.2108+7A>G	XP_016875451.1:n.2108+7A>G
NM_024312.5:c.3335+7A>G MANE Select	NP_077288.2:n.3335+7A>G