Canonical Allele Identifier: CA386304779

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179793C>T (hg19) ; chr12:g.101786015C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786015C>T , CM000674.2:g.101786015C>T	GRCh38
NC_000012.11:g.102179793C>T , CM000674.1:g.102179793C>T	GRCh37
NC_000012.10:g.100703924C>T	NCBI36
NG_021243.1:g.49853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.568G>A MANE Select	ENSP00000299314.7:p.Asp190Asn
ENST00000299314.11:c.568G>A	ENSP00000299314.7:p.Asp190Asn
ENST00000549940.5:c.568G>A	ENSP00000449150.1:p.Asp190Asn
ENST00000550352.1:n.362G>A
ENST00000552681.1:c.202G>A	ENSP00000449217.1:p.Asp68Asn
NM_024312.4:c.568G>A	NP_077288.2:p.Asp190Asn
XM_006719593.2:c.568G>A	XP_006719656.1:p.Asp190Asn
XM_011538731.1:c.487G>A	XP_011537033.1:p.Asp163Asn
XM_006719593.3:c.568G>A	XP_006719656.1:p.Asp190Asn
XM_011538731.2:c.487G>A	XP_011537033.1:p.Asp163Asn
XM_017019961.1:c.352G>A	XP_016875450.1:p.Asp118Asn
XM_017019962.2:c.-783G>A	XP_016875451.1:n.-783G>A
NM_024312.5:c.568G>A MANE Select	NP_077288.2:p.Asp190Asn