Canonical Allele Identifier: CA386486989

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102224396G>C (hg19) ; chr12:g.101830618G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830618G>C , CM000674.2:g.101830618G>C	GRCh38
NC_000012.11:g.102224396G>C , CM000674.1:g.102224396G>C	GRCh37
NC_000012.10:g.100748527G>C	NCBI36
NG_021243.1:g.5250C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.58C>G MANE Select	ENSP00000299314.7:p.Leu20Val
ENST00000647144.1:n.46C>G
ENST00000299314.11:c.58C>G	ENSP00000299314.7:p.Leu20Val
ENST00000392919.4:c.58C>G	ENSP00000376651.4:p.Leu20Val
ENST00000549165.1:c.58C>G	ENSP00000450413.1:p.Leu20Val
ENST00000549940.5:c.58C>G	ENSP00000449150.1:p.Leu20Val
NM_024312.4:c.58C>G	NP_077288.2:p.Leu20Val
XM_006719593.2:c.58C>G	XP_006719656.1:p.Leu20Val
XM_006719593.3:c.58C>G	XP_006719656.1:p.Leu20Val
XM_017019961.1:c.-100+8C>G	XP_016875450.1:n.-100+8C>G
XM_017019962.2:c.-1293C>G	XP_016875451.1:n.-1293C>G
NM_024312.5:c.58C>G MANE Select	NP_077288.2:p.Leu20Val