Canonical Allele Identifier: CA386293482

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151355T>A (hg19) ; chr12:g.101757577T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757577T>A , CM000674.2:g.101757577T>A	GRCh38
NC_000012.11:g.102151355T>A , CM000674.1:g.102151355T>A	GRCh37
NC_000012.10:g.100675486T>A	NCBI36
NG_021243.1:g.78291A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3330A>T MANE Select	ENSP00000299314.7:p.Lys1110Asn
ENST00000299314.11:c.3330A>T	ENSP00000299314.7:p.Lys1110Asn
ENST00000549194.1:n.196A>T
ENST00000549738.5:c.81A>T	ENSP00000450161.1:p.Lys27Asn
ENST00000550718.1:c.142A>T
NM_024312.4:c.3330A>T	NP_077288.2:p.Lys1110Asn
XM_006719593.2:c.3330A>T	XP_006719656.1:p.Lys1110Asn
XM_011538731.1:c.3249A>T	XP_011537033.1:p.Lys1083Asn
XM_006719593.3:c.3330A>T	XP_006719656.1:p.Lys1110Asn
XM_011538731.2:c.3249A>T	XP_011537033.1:p.Lys1083Asn
XM_017019961.1:c.3114A>T	XP_016875450.1:p.Lys1038Asn
XM_017019962.2:c.2103A>T	XP_016875451.1:p.Lys701Asn
NM_024312.5:c.3330A>T MANE Select	NP_077288.2:p.Lys1110Asn