Canonical Allele Identifier: CA6746982

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796678G>A , CM000674.2:g.101796678G>A	GRCh38
NC_000012.11:g.102190456G>A , CM000674.1:g.102190456G>A	GRCh37
NC_000012.10:g.100714587G>A	NCBI36
NG_021243.1:g.39190C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.202C>T MANE Select	NP_077288.2:p.Arg68Trp
ENST00000299314.12:c.202C>T MANE Select	ENSP00000299314.7:p.Arg68Trp
NM_024312.4:c.202C>T	NP_077288.2:p.Arg68Trp
ENST00000299314.11:c.202C>T	ENSP00000299314.7:p.Arg68Trp
ENST00000392919.4:c.202C>T	ENSP00000376651.4:p.Arg68Trp
ENST00000549165.1:c.202C>T	ENSP00000450413.1:p.Arg68Trp
ENST00000549940.5:c.202C>T	ENSP00000449150.1:p.Arg68Trp
ENST00000647144.1:n.322C>T
XM_006719593.2:c.202C>T	XP_006719656.1:p.Arg68Trp
XM_006719593.3:c.202C>T	XP_006719656.1:p.Arg68Trp
XM_011538731.1:c.121C>T	XP_011537033.1:p.Arg41Trp
XM_011538731.2:c.121C>T	XP_011537033.1:p.Arg41Trp
XM_017019961.1:c.-15C>T	XP_016875450.1:n.-15C>T
XM_017019962.2:c.-1149C>T	XP_016875451.1:n.-1149C>T