Canonical Allele Identifier: CA386305050

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101786146-G-A
• MyVariant Identifiers: chr12:g.102179924G>A (hg19) ; chr12:g.101786146G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786146G>A , CM000674.2:g.101786146G>A	GRCh38
NC_000012.11:g.102179924G>A , CM000674.1:g.102179924G>A	GRCh37
NC_000012.10:g.100704055G>A	NCBI36
NG_021243.1:g.49722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.437C>T MANE Select	ENSP00000299314.7:p.Pro146Leu
ENST00000299314.11:c.437C>T	ENSP00000299314.7:p.Pro146Leu
ENST00000549940.5:c.437C>T	ENSP00000449150.1:p.Pro146Leu
ENST00000550352.1:n.231C>T
ENST00000552681.1:c.71C>T	ENSP00000449217.1:p.Pro24Leu
NM_024312.4:c.437C>T	NP_077288.2:p.Pro146Leu
XM_006719593.2:c.437C>T	XP_006719656.1:p.Pro146Leu
XM_011538731.1:c.356C>T	XP_011537033.1:p.Pro119Leu
XM_006719593.3:c.437C>T	XP_006719656.1:p.Pro146Leu
XM_011538731.2:c.356C>T	XP_011537033.1:p.Pro119Leu
XM_017019961.1:c.221C>T	XP_016875450.1:p.Pro74Leu
XM_017019962.2:c.-914C>T	XP_016875451.1:n.-914C>T
NM_024312.5:c.437C>T MANE Select	NP_077288.2:p.Pro146Leu