Canonical Allele Identifier: CA386293161

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757236A>G , CM000674.2:g.101757236A>G	GRCh38
NC_000012.11:g.102151014A>G , CM000674.1:g.102151014A>G	GRCh37
NC_000012.10:g.100675145A>G	NCBI36
NG_021243.1:g.78632T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3410T>C MANE Select	NP_077288.2:p.Leu1137Ser
ENST00000299314.12:c.3410T>C MANE Select	ENSP00000299314.7:p.Leu1137Ser
NM_024312.4:c.3410T>C	NP_077288.2:p.Leu1137Ser
ENST00000299314.11:c.3410T>C	ENSP00000299314.7:p.Leu1137Ser
ENST00000549194.1:n.276T>C
ENST00000549738.5:c.161T>C	ENSP00000450161.1:p.Leu54Ser
ENST00000550718.1:c.222T>C
XM_006719593.2:c.3410T>C	XP_006719656.1:p.Leu1137Ser
XM_006719593.3:c.3410T>C	XP_006719656.1:p.Leu1137Ser
XM_011538731.1:c.3329T>C	XP_011537033.1:p.Leu1110Ser
XM_011538731.2:c.3329T>C	XP_011537033.1:p.Leu1110Ser
XM_017019961.1:c.3194T>C	XP_016875450.1:p.Leu1065Ser
XM_017019962.2:c.2183T>C	XP_016875451.1:p.Leu728Ser