Canonical Allele Identifier: CA386293621

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151375C>G (hg19) ; chr12:g.101757597C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757597C>G , CM000674.2:g.101757597C>G	GRCh38
NC_000012.11:g.102151375C>G , CM000674.1:g.102151375C>G	GRCh37
NC_000012.10:g.100675506C>G	NCBI36
NG_021243.1:g.78271G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3310G>C MANE Select	ENSP00000299314.7:p.Ala1104Pro
ENST00000299314.11:c.3310G>C	ENSP00000299314.7:p.Ala1104Pro
ENST00000549194.1:n.176G>C
ENST00000549738.5:c.61G>C	ENSP00000450161.1:p.Ala21Pro
ENST00000550718.1:c.122G>C
NM_024312.4:c.3310G>C	NP_077288.2:p.Ala1104Pro
XM_006719593.2:c.3310G>C	XP_006719656.1:p.Ala1104Pro
XM_011538731.1:c.3229G>C	XP_011537033.1:p.Ala1077Pro
XM_006719593.3:c.3310G>C	XP_006719656.1:p.Ala1104Pro
XM_011538731.2:c.3229G>C	XP_011537033.1:p.Ala1077Pro
XM_017019961.1:c.3094G>C	XP_016875450.1:p.Ala1032Pro
XM_017019962.2:c.2083G>C	XP_016875451.1:p.Ala695Pro
NM_024312.5:c.3310G>C MANE Select	NP_077288.2:p.Ala1104Pro