Canonical Allele Identifier: CA386304862

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179835G>C (hg19) ; chr12:g.101786057G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786057G>C , CM000674.2:g.101786057G>C	GRCh38
NC_000012.11:g.102179835G>C , CM000674.1:g.102179835G>C	GRCh37
NC_000012.10:g.100703966G>C	NCBI36
NG_021243.1:g.49811C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.526C>G MANE Select	ENSP00000299314.7:p.Pro176Ala
ENST00000299314.11:c.526C>G	ENSP00000299314.7:p.Pro176Ala
ENST00000549940.5:c.526C>G	ENSP00000449150.1:p.Pro176Ala
ENST00000550352.1:n.320C>G
ENST00000552681.1:c.160C>G	ENSP00000449217.1:p.Pro54Ala
NM_024312.4:c.526C>G	NP_077288.2:p.Pro176Ala
XM_006719593.2:c.526C>G	XP_006719656.1:p.Pro176Ala
XM_011538731.1:c.445C>G	XP_011537033.1:p.Pro149Ala
XM_006719593.3:c.526C>G	XP_006719656.1:p.Pro176Ala
XM_011538731.2:c.445C>G	XP_011537033.1:p.Pro149Ala
XM_017019961.1:c.310C>G	XP_016875450.1:p.Pro104Ala
XM_017019962.2:c.-825C>G	XP_016875451.1:n.-825C>G
NM_024312.5:c.526C>G MANE Select	NP_077288.2:p.Pro176Ala