Canonical Allele Identifier: CA386487099

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830669-A-G
• MyVariant Identifiers: chr12:g.102224447A>G (hg19) ; chr12:g.101830669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830669A>G , CM000674.2:g.101830669A>G	GRCh38
NC_000012.11:g.102224447A>G , CM000674.1:g.102224447A>G	GRCh37
NC_000012.10:g.100748578A>G	NCBI36
NG_021243.1:g.5199T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.7T>C MANE Select	ENSP00000299314.7:p.Phe3Leu
ENST00000299314.11:c.7T>C	ENSP00000299314.7:p.Phe3Leu
ENST00000392919.4:c.7T>C	ENSP00000376651.4:p.Phe3Leu
ENST00000549165.1:c.7T>C	ENSP00000450413.1:p.Phe3Leu
ENST00000549940.5:c.7T>C	ENSP00000449150.1:p.Phe3Leu
NM_024312.4:c.7T>C	NP_077288.2:p.Phe3Leu
XM_006719593.2:c.7T>C	XP_006719656.1:p.Phe3Leu
XM_006719593.3:c.7T>C	XP_006719656.1:p.Phe3Leu
XM_017019961.1:c.-143T>C	XP_016875450.1:n.-143T>C
XM_017019962.2:c.-1344T>C	XP_016875451.1:n.-1344T>C
NM_024312.5:c.7T>C MANE Select	NP_077288.2:p.Phe3Leu