Canonical Allele Identifier: CA386295154

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761164A>G , CM000674.2:g.101761164A>G	GRCh38
NC_000012.11:g.102154942A>G , CM000674.1:g.102154942A>G	GRCh37
NC_000012.10:g.100679073A>G	NCBI36
NG_021243.1:g.74704T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3098T>C MANE Select	NP_077288.2:p.Leu1033Pro
ENST00000299314.12:c.3098T>C MANE Select	ENSP00000299314.7:p.Leu1033Pro
NM_024312.4:c.3098T>C	NP_077288.2:p.Leu1033Pro
ENST00000299314.11:c.3098T>C	ENSP00000299314.7:p.Leu1033Pro
XM_006719593.2:c.3098T>C	XP_006719656.1:p.Leu1033Pro
XM_006719593.3:c.3098T>C	XP_006719656.1:p.Leu1033Pro
XM_011538731.1:c.3017T>C	XP_011537033.1:p.Leu1006Pro
XM_011538731.2:c.3017T>C	XP_011537033.1:p.Leu1006Pro
XM_017019961.1:c.2882T>C	XP_016875450.1:p.Leu961Pro
XM_017019962.2:c.1871T>C	XP_016875451.1:p.Leu624Pro