Canonical Allele Identifier: CA386296286

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155438T>A (hg19) ; chr12:g.101761660T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761660T>A , CM000674.2:g.101761660T>A	GRCh38
NC_000012.11:g.102155438T>A , CM000674.1:g.102155438T>A	GRCh37
NC_000012.10:g.100679569T>A	NCBI36
NG_021243.1:g.74208A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2819A>T MANE Select	ENSP00000299314.7:p.Lys940Ile
ENST00000299314.11:c.2819A>T	ENSP00000299314.7:p.Lys940Ile
NM_024312.4:c.2819A>T	NP_077288.2:p.Lys940Ile
XM_006719593.2:c.2819A>T	XP_006719656.1:p.Lys940Ile
XM_011538731.1:c.2738A>T	XP_011537033.1:p.Lys913Ile
XM_006719593.3:c.2819A>T	XP_006719656.1:p.Lys940Ile
XM_011538731.2:c.2738A>T	XP_011537033.1:p.Lys913Ile
XM_017019961.1:c.2603A>T	XP_016875450.1:p.Lys868Ile
XM_017019962.2:c.1592A>T	XP_016875451.1:p.Lys531Ile
NM_024312.5:c.2819A>T MANE Select	NP_077288.2:p.Lys940Ile