Canonical Allele Identifier: CA6746706

Gene: GNPTAB

Linked Data

• dbSNP Id: rs775526062
• ExAC: 12:102163999 G / A
• gnomAD v2: 12-102163999-G-A
• gnomAD v3: 12-101770221-G-A
• gnomAD v4: 12-101770221-G-A
• MyVariant Identifiers: chr12:g.102163999G>A (hg19) ; chr12:g.101770221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770221G>A , CM000674.2:g.101770221G>A	GRCh38
NC_000012.11:g.102163999G>A , CM000674.1:g.102163999G>A	GRCh37
NC_000012.10:g.100688130G>A	NCBI36
NG_021243.1:g.65647C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1114-30C>T MANE Select	ENSP00000299314.7:n.1114-30C>T
ENST00000299314.11:c.1114-30C>T	ENSP00000299314.7:n.1114-30C>T
ENST00000549940.5:c.1114-30C>T	ENSP00000449150.1:n.1114-30C>T
NM_024312.4:c.1114-30C>T	NP_077288.2:n.1114-30C>T
XM_006719593.2:c.1114-30C>T	XP_006719656.1:n.1114-30C>T
XM_011538731.1:c.1033-30C>T	XP_011537033.1:n.1033-30C>T
XM_006719593.3:c.1114-30C>T	XP_006719656.1:n.1114-30C>T
XM_011538731.2:c.1033-30C>T	XP_011537033.1:n.1033-30C>T
XM_017019961.1:c.898-30C>T	XP_016875450.1:n.898-30C>T
XM_017019962.2:c.-114-30C>T	XP_016875451.1:n.-114-30C>T
NM_024312.5:c.1114-30C>T MANE Select	NP_077288.2:n.1114-30C>T