Canonical Allele Identifier: CA386293201

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151033A>G (hg19) ; chr12:g.101757255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757255A>G , CM000674.2:g.101757255A>G	GRCh38
NC_000012.11:g.102151033A>G , CM000674.1:g.102151033A>G	GRCh37
NC_000012.10:g.100675164A>G	NCBI36
NG_021243.1:g.78613T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3391T>C MANE Select	ENSP00000299314.7:p.Ser1131Pro
ENST00000299314.11:c.3391T>C	ENSP00000299314.7:p.Ser1131Pro
ENST00000549194.1:n.257T>C
ENST00000549738.5:c.142T>C	ENSP00000450161.1:p.Ser48Pro
ENST00000550718.1:c.203T>C
NM_024312.4:c.3391T>C	NP_077288.2:p.Ser1131Pro
XM_006719593.2:c.3391T>C	XP_006719656.1:p.Ser1131Pro
XM_011538731.1:c.3310T>C	XP_011537033.1:p.Ser1104Pro
XM_006719593.3:c.3391T>C	XP_006719656.1:p.Ser1131Pro
XM_011538731.2:c.3310T>C	XP_011537033.1:p.Ser1104Pro
XM_017019961.1:c.3175T>C	XP_016875450.1:p.Ser1059Pro
XM_017019962.2:c.2164T>C	XP_016875451.1:p.Ser722Pro
NM_024312.5:c.3391T>C MANE Select	NP_077288.2:p.Ser1131Pro