Canonical Allele Identifier: CA386294829

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153886G>C (hg19) ; chr12:g.101760108G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760108G>C , CM000674.2:g.101760108G>C	GRCh38
NC_000012.11:g.102153886G>C , CM000674.1:g.102153886G>C	GRCh37
NC_000012.10:g.100678017G>C	NCBI36
NG_021243.1:g.75760C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3171C>G MANE Select	ENSP00000299314.7:p.Cys1057Trp
ENST00000299314.11:c.3171C>G	ENSP00000299314.7:p.Cys1057Trp
ENST00000549194.1:n.37C>G
NM_024312.4:c.3171C>G	NP_077288.2:p.Cys1057Trp
XM_006719593.2:c.3171C>G	XP_006719656.1:p.Cys1057Trp
XM_011538731.1:c.3090C>G	XP_011537033.1:p.Cys1030Trp
XM_006719593.3:c.3171C>G	XP_006719656.1:p.Cys1057Trp
XM_011538731.2:c.3090C>G	XP_011537033.1:p.Cys1030Trp
XM_017019961.1:c.2955C>G	XP_016875450.1:p.Cys985Trp
XM_017019962.2:c.1944C>G	XP_016875451.1:p.Cys648Trp
NM_024312.5:c.3171C>G MANE Select	NP_077288.2:p.Cys1057Trp