Canonical Allele Identifier: CA242319954

Gene: GNPTAB

Linked Data

• dbSNP Id: rs911734197
• gnomAD v2: 12-102224580-C-T
• gnomAD v3: 12-101830802-C-T
• gnomAD v4: 12-101830802-C-T
• MyVariant Identifiers: chr12:g.102224580C>T (hg19) ; chr12:g.101830802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830802C>T , CM000674.2:g.101830802C>T	GRCh38
NC_000012.11:g.102224580C>T , CM000674.1:g.102224580C>T	GRCh37
NC_000012.10:g.100748711C>T	NCBI36
NG_021243.1:g.5066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-127G>A MANE Select	ENSP00000299314.7:n.-127G>A
ENST00000299314.11:c.-127G>A	ENSP00000299314.7:n.-127G>A
ENST00000392919.4:c.-127G>A	ENSP00000376651.4:n.-127G>A
ENST00000549940.5:c.-127G>A	ENSP00000449150.1:n.-127G>A
NM_024312.4:c.-127G>A	NP_077288.2:n.-127G>A
XM_006719593.2:c.-127G>A	XP_006719656.1:n.-127G>A
XM_006719593.3:c.-127G>A	XP_006719656.1:n.-127G>A
XM_017019961.1:c.-276G>A	XP_016875450.1:n.-276G>A
XM_017019962.2:c.-1477G>A	XP_016875451.1:n.-1477G>A
NM_024312.5:c.-127G>A MANE Select	NP_077288.2:n.-127G>A