Canonical Allele Identifier: CA242454304

Gene: GNPTAB

Linked Data

• dbSNP Id: rs281865004
• gnomAD v4: 12-101761613-G-T
• MyVariant Identifiers: chr12:g.102155391G>T (hg19) ; chr12:g.101761613G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761613G>T , CM000674.2:g.101761613G>T	GRCh38
NC_000012.11:g.102155391G>T , CM000674.1:g.102155391G>T	GRCh37
NC_000012.10:g.100679522G>T	NCBI36
NG_021243.1:g.74255C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2866C>A MANE Select	ENSP00000299314.7:p.His956Asn
ENST00000299314.11:c.2866C>A	ENSP00000299314.7:p.His956Asn
NM_024312.4:c.2866C>A	NP_077288.2:p.His956Asn
XM_006719593.2:c.2866C>A	XP_006719656.1:p.His956Asn
XM_011538731.1:c.2785C>A	XP_011537033.1:p.His929Asn
XM_006719593.3:c.2866C>A	XP_006719656.1:p.His956Asn
XM_011538731.2:c.2785C>A	XP_011537033.1:p.His929Asn
XM_017019961.1:c.2650C>A	XP_016875450.1:p.His884Asn
XM_017019962.2:c.1639C>A	XP_016875451.1:p.His547Asn
NM_024312.5:c.2866C>A MANE Select	NP_077288.2:p.His956Asn