Canonical Allele Identifier: CA6747037

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1555277095
• ExAC: 12:102224464 C / T
• gnomAD v2: 12-102224464-C-T
• gnomAD v4: 12-101830686-C-T
• MyVariant Identifiers: chr12:g.102224464C>T (hg19) ; chr12:g.102224464_102224469delinsTCGCCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830686C>T , CM000674.2:g.101830686C>T	GRCh38
NC_000012.11:g.102224464C>T , CM000674.1:g.102224464C>T	GRCh37
NC_000012.10:g.100748595C>T	NCBI36
NG_021243.1:g.5182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-11G>A MANE Select	ENSP00000299314.7:n.-11G>A
ENST00000299314.11:c.-11G>A	ENSP00000299314.7:n.-11G>A
ENST00000392919.4:c.-11G>A	ENSP00000376651.4:n.-11G>A
ENST00000549940.5:c.-11G>A	ENSP00000449150.1:n.-11G>A
NM_024312.4:c.-11G>A	NP_077288.2:n.-11G>A
XM_006719593.2:c.-11G>A	XP_006719656.1:n.-11G>A
XM_006719593.3:c.-11G>A	XP_006719656.1:n.-11G>A
XM_017019961.1:c.-160G>A	XP_016875450.1:n.-160G>A
XM_017019962.2:c.-1361G>A	XP_016875451.1:n.-1361G>A
NM_024312.5:c.-11G>A MANE Select	NP_077288.2:n.-11G>A