Canonical Allele Identifier: CA2620449974

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830680-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830680C>G , CM000674.2:g.101830680C>G	GRCh38
NC_000012.11:g.102224458C>G , CM000674.1:g.102224458C>G	GRCh37
NC_000012.10:g.100748589C>G	NCBI36
NG_021243.1:g.5188G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-5G>C MANE Select	ENSP00000299314.7:n.-5G>C
ENST00000299314.11:c.-5G>C	ENSP00000299314.7:n.-5G>C
ENST00000392919.4:c.-5G>C	ENSP00000376651.4:n.-5G>C
ENST00000549940.5:c.-5G>C	ENSP00000449150.1:n.-5G>C
NM_024312.4:c.-5G>C	NP_077288.2:n.-5G>C
XM_006719593.2:c.-5G>C	XP_006719656.1:n.-5G>C
XM_006719593.3:c.-5G>C	XP_006719656.1:n.-5G>C
XM_017019961.1:c.-154G>C	XP_016875450.1:n.-154G>C
XM_017019962.2:c.-1355G>C	XP_016875451.1:n.-1355G>C
NM_024312.5:c.-5G>C MANE Select	NP_077288.2:n.-5G>C