Canonical Allele Identifier: CA386295455

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761222-A-G
• MyVariant Identifiers: chr12:g.102155000A>G (hg19) ; chr12:g.101761222A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761222A>G , CM000674.2:g.101761222A>G	GRCh38
NC_000012.11:g.102155000A>G , CM000674.1:g.102155000A>G	GRCh37
NC_000012.10:g.100679131A>G	NCBI36
NG_021243.1:g.74646T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3040T>C MANE Select	ENSP00000299314.7:p.Phe1014Leu
ENST00000299314.11:c.3040T>C	ENSP00000299314.7:p.Phe1014Leu
NM_024312.4:c.3040T>C	NP_077288.2:p.Phe1014Leu
XM_006719593.2:c.3040T>C	XP_006719656.1:p.Phe1014Leu
XM_011538731.1:c.2959T>C	XP_011537033.1:p.Phe987Leu
XM_006719593.3:c.3040T>C	XP_006719656.1:p.Phe1014Leu
XM_011538731.2:c.2959T>C	XP_011537033.1:p.Phe987Leu
XM_017019961.1:c.2824T>C	XP_016875450.1:p.Phe942Leu
XM_017019962.2:c.1813T>C	XP_016875451.1:p.Phe605Leu
NM_024312.5:c.3040T>C MANE Select	NP_077288.2:p.Phe1014Leu