Canonical Allele Identifier: CA2620450518

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830760-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830760C>A , CM000674.2:g.101830760C>A	GRCh38
NC_000012.11:g.102224538C>A , CM000674.1:g.102224538C>A	GRCh37
NC_000012.10:g.100748669C>A	NCBI36
NG_021243.1:g.5108G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-85G>T MANE Select	ENSP00000299314.7:n.-85G>T
ENST00000299314.11:c.-85G>T	ENSP00000299314.7:n.-85G>T
ENST00000392919.4:c.-85G>T	ENSP00000376651.4:n.-85G>T
ENST00000549940.5:c.-85G>T	ENSP00000449150.1:n.-85G>T
NM_024312.4:c.-85G>T	NP_077288.2:n.-85G>T
XM_006719593.2:c.-85G>T	XP_006719656.1:n.-85G>T
XM_006719593.3:c.-85G>T	XP_006719656.1:n.-85G>T
XM_017019961.1:c.-234G>T	XP_016875450.1:n.-234G>T
XM_017019962.2:c.-1435G>T	XP_016875451.1:n.-1435G>T
NM_024312.5:c.-85G>T MANE Select	NP_077288.2:n.-85G>T