Canonical Allele Identifier: CA2620450633

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830787-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830787A>G , CM000674.2:g.101830787A>G	GRCh38
NC_000012.11:g.102224565A>G , CM000674.1:g.102224565A>G	GRCh37
NC_000012.10:g.100748696A>G	NCBI36
NG_021243.1:g.5081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-112T>C MANE Select	ENSP00000299314.7:n.-112T>C
ENST00000299314.11:c.-112T>C	ENSP00000299314.7:n.-112T>C
ENST00000392919.4:c.-112T>C	ENSP00000376651.4:n.-112T>C
ENST00000549940.5:c.-112T>C	ENSP00000449150.1:n.-112T>C
NM_024312.4:c.-112T>C	NP_077288.2:n.-112T>C
XM_006719593.2:c.-112T>C	XP_006719656.1:n.-112T>C
XM_006719593.3:c.-112T>C	XP_006719656.1:n.-112T>C
XM_017019961.1:c.-261T>C	XP_016875450.1:n.-261T>C
XM_017019962.2:c.-1462T>C	XP_016875451.1:n.-1462T>C
NM_024312.5:c.-112T>C MANE Select	NP_077288.2:n.-112T>C