Canonical Allele Identifier: CA386305694

Gene: GNPTAB

Linked Data

• dbSNP Id: rs916666251
• gnomAD v3: 12-101796702-T-G
• gnomAD v4: 12-101796702-T-G
• MyVariant Identifiers: chr12:g.102190480T>G (hg19) ; chr12:g.101796702T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796702T>G , CM000674.2:g.101796702T>G	GRCh38
NC_000012.11:g.102190480T>G , CM000674.1:g.102190480T>G	GRCh37
NC_000012.10:g.100714611T>G	NCBI36
NG_021243.1:g.39166A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.178A>C MANE Select	ENSP00000299314.7:p.Ile60Leu
ENST00000647144.1:n.298A>C
ENST00000299314.11:c.178A>C	ENSP00000299314.7:p.Ile60Leu
ENST00000392919.4:c.178A>C	ENSP00000376651.4:p.Ile60Leu
ENST00000549165.1:c.178A>C	ENSP00000450413.1:p.Ile60Leu
ENST00000549940.5:c.178A>C	ENSP00000449150.1:p.Ile60Leu
NM_024312.4:c.178A>C	NP_077288.2:p.Ile60Leu
XM_006719593.2:c.178A>C	XP_006719656.1:p.Ile60Leu
XM_011538731.1:c.97A>C	XP_011537033.1:p.Ile33Leu
XM_006719593.3:c.178A>C	XP_006719656.1:p.Ile60Leu
XM_011538731.2:c.97A>C	XP_011537033.1:p.Ile33Leu
XM_017019961.1:c.-39A>C	XP_016875450.1:n.-39A>C
XM_017019962.2:c.-1173A>C	XP_016875451.1:n.-1173A>C
NM_024312.5:c.178A>C MANE Select	NP_077288.2:p.Ile60Leu