Canonical Allele Identifier: CA2575264930

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761489-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761489C>T , CM000674.2:g.101761489C>T	GRCh38
NC_000012.11:g.102155267C>T , CM000674.1:g.102155267C>T	GRCh37
NC_000012.10:g.100679398C>T	NCBI36
NG_021243.1:g.74379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2915+75G>A MANE Select	ENSP00000299314.7:n.2915+75G>A
ENST00000299314.11:c.2915+75G>A	ENSP00000299314.7:n.2915+75G>A
NM_024312.4:c.2915+75G>A	NP_077288.2:n.2915+75G>A
XM_006719593.2:c.2915+75G>A	XP_006719656.1:n.2915+75G>A
XM_011538731.1:c.2834+75G>A	XP_011537033.1:n.2834+75G>A
XM_006719593.3:c.2915+75G>A	XP_006719656.1:n.2915+75G>A
XM_011538731.2:c.2834+75G>A	XP_011537033.1:n.2834+75G>A
XM_017019961.1:c.2699+75G>A	XP_016875450.1:n.2699+75G>A
XM_017019962.2:c.1688+75G>A	XP_016875451.1:n.1688+75G>A
NM_024312.5:c.2915+75G>A MANE Select	NP_077288.2:n.2915+75G>A