Canonical Allele Identifier: CA6746360

Gene: GNPTAB

Linked Data

• dbSNP Id: rs755410062
• ExAC: 12:102155559 C / T
• gnomAD v2: 12-102155559-C-T
• gnomAD v4: 12-101761781-C-T
• MyVariant Identifiers: chr12:g.102155559C>T (hg19) ; chr12:g.101761781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761781C>T , CM000674.2:g.101761781C>T	GRCh38
NC_000012.11:g.102155559C>T , CM000674.1:g.102155559C>T	GRCh37
NC_000012.10:g.100679690C>T	NCBI36
NG_021243.1:g.74087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2716-18G>A MANE Select	ENSP00000299314.7:n.2716-18G>A
ENST00000299314.11:c.2716-18G>A	ENSP00000299314.7:n.2716-18G>A
NM_024312.4:c.2716-18G>A	NP_077288.2:n.2716-18G>A
XM_006719593.2:c.2716-18G>A	XP_006719656.1:n.2716-18G>A
XM_011538731.1:c.2635-18G>A	XP_011537033.1:n.2635-18G>A
XM_006719593.3:c.2716-18G>A	XP_006719656.1:n.2716-18G>A
XM_011538731.2:c.2635-18G>A	XP_011537033.1:n.2635-18G>A
XM_017019961.1:c.2500-18G>A	XP_016875450.1:n.2500-18G>A
XM_017019962.2:c.1489-18G>A	XP_016875451.1:n.1489-18G>A
NM_024312.5:c.2716-18G>A MANE Select	NP_077288.2:n.2716-18G>A