Canonical Allele Identifier: CA2575264833

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101753542-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753542G>C , CM000674.2:g.101753542G>C	GRCh38
NC_000012.11:g.102147320G>C , CM000674.1:g.102147320G>C	GRCh37
NC_000012.10:g.100671451G>C	NCBI36
NG_021243.1:g.82326C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3435-3C>G MANE Select	ENSP00000299314.7:n.3435-3C>G
ENST00000299314.11:c.3435-3C>G	ENSP00000299314.7:n.3435-3C>G
ENST00000549738.5:c.333-3C>G	ENSP00000450161.1:n.333-3C>G
NM_024312.4:c.3435-3C>G	NP_077288.2:n.3435-3C>G
XM_011538731.1:c.3354-3C>G	XP_011537033.1:n.3354-3C>G
XM_011538731.2:c.3354-3C>G	XP_011537033.1:n.3354-3C>G
XM_017019961.1:c.3219-3C>G	XP_016875450.1:n.3219-3C>G
XM_017019962.2:c.2208-3C>G	XP_016875451.1:n.2208-3C>G
NM_024312.5:c.3435-3C>G MANE Select	NP_077288.2:n.3435-3C>G