Canonical Allele Identifier: CA2575265319

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830688-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830688G>A , CM000674.2:g.101830688G>A	GRCh38
NC_000012.11:g.102224466G>A , CM000674.1:g.102224466G>A	GRCh37
NC_000012.10:g.100748597G>A	NCBI36
NG_021243.1:g.5180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-13C>T MANE Select	ENSP00000299314.7:n.-13C>T
ENST00000299314.11:c.-13C>T	ENSP00000299314.7:n.-13C>T
ENST00000392919.4:c.-13C>T	ENSP00000376651.4:n.-13C>T
ENST00000549940.5:c.-13C>T	ENSP00000449150.1:n.-13C>T
NM_024312.4:c.-13C>T	NP_077288.2:n.-13C>T
XM_006719593.2:c.-13C>T	XP_006719656.1:n.-13C>T
XM_006719593.3:c.-13C>T	XP_006719656.1:n.-13C>T
XM_017019961.1:c.-162C>T	XP_016875450.1:n.-162C>T
XM_017019962.2:c.-1363C>T	XP_016875451.1:n.-1363C>T
NM_024312.5:c.-13C>T MANE Select	NP_077288.2:n.-13C>T