Canonical Allele Identifier: CA386296351

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952998995
• MyVariant Identifiers: chr12:g.102155466A>G (hg19) ; chr12:g.101761688A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761688A>G , CM000674.2:g.101761688A>G	GRCh38
NC_000012.11:g.102155466A>G , CM000674.1:g.102155466A>G	GRCh37
NC_000012.10:g.100679597A>G	NCBI36
NG_021243.1:g.74180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2791T>C MANE Select	ENSP00000299314.7:p.Phe931Leu
ENST00000299314.11:c.2791T>C	ENSP00000299314.7:p.Phe931Leu
NM_024312.4:c.2791T>C	NP_077288.2:p.Phe931Leu
XM_006719593.2:c.2791T>C	XP_006719656.1:p.Phe931Leu
XM_011538731.1:c.2710T>C	XP_011537033.1:p.Phe904Leu
XM_006719593.3:c.2791T>C	XP_006719656.1:p.Phe931Leu
XM_011538731.2:c.2710T>C	XP_011537033.1:p.Phe904Leu
XM_017019961.1:c.2575T>C	XP_016875450.1:p.Phe859Leu
XM_017019962.2:c.1564T>C	XP_016875451.1:p.Phe522Leu
NM_024312.5:c.2791T>C MANE Select	NP_077288.2:p.Phe931Leu