Canonical Allele Identifier: CA386304972

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179883A>C (hg19) ; chr12:g.101786105A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786105A>C , CM000674.2:g.101786105A>C	GRCh38
NC_000012.11:g.102179883A>C , CM000674.1:g.102179883A>C	GRCh37
NC_000012.10:g.100704014A>C	NCBI36
NG_021243.1:g.49763T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.478T>G MANE Select	ENSP00000299314.7:p.Ser160Ala
ENST00000299314.11:c.478T>G	ENSP00000299314.7:p.Ser160Ala
ENST00000549940.5:c.478T>G	ENSP00000449150.1:p.Ser160Ala
ENST00000550352.1:n.272T>G
ENST00000552681.1:c.112T>G	ENSP00000449217.1:p.Ser38Ala
NM_024312.4:c.478T>G	NP_077288.2:p.Ser160Ala
XM_006719593.2:c.478T>G	XP_006719656.1:p.Ser160Ala
XM_011538731.1:c.397T>G	XP_011537033.1:p.Ser133Ala
XM_006719593.3:c.478T>G	XP_006719656.1:p.Ser160Ala
XM_011538731.2:c.397T>G	XP_011537033.1:p.Ser133Ala
XM_017019961.1:c.262T>G	XP_016875450.1:p.Ser88Ala
XM_017019962.2:c.-873T>G	XP_016875451.1:n.-873T>G
NM_024312.5:c.478T>G MANE Select	NP_077288.2:p.Ser160Ala