Canonical Allele Identifier: CA386303112

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770470-G-C
• MyVariant Identifiers: chr12:g.102164248G>C (hg19) ; chr12:g.101770470G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770470G>C , CM000674.2:g.101770470G>C	GRCh38
NC_000012.11:g.102164248G>C , CM000674.1:g.102164248G>C	GRCh37
NC_000012.10:g.100688379G>C	NCBI36
NG_021243.1:g.65398C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1049C>G MANE Select	ENSP00000299314.7:p.Thr350Ser
ENST00000299314.11:c.1049C>G	ENSP00000299314.7:p.Thr350Ser
ENST00000549940.5:c.1049C>G	ENSP00000449150.1:p.Thr350Ser
NM_024312.4:c.1049C>G	NP_077288.2:p.Thr350Ser
XM_006719593.2:c.1049C>G	XP_006719656.1:p.Thr350Ser
XM_011538731.1:c.968C>G	XP_011537033.1:p.Thr323Ser
XM_006719593.3:c.1049C>G	XP_006719656.1:p.Thr350Ser
XM_011538731.2:c.968C>G	XP_011537033.1:p.Thr323Ser
XM_017019961.1:c.833C>G	XP_016875450.1:p.Thr278Ser
XM_017019962.2:c.-179C>G	XP_016875451.1:n.-179C>G
NM_024312.5:c.1049C>G MANE Select	NP_077288.2:p.Thr350Ser