Canonical Allele Identifier: CA386305774

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101796736-T-A
• MyVariant Identifiers: chr12:g.102190514T>A (hg19) ; chr12:g.101796736T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796736T>A , CM000674.2:g.101796736T>A	GRCh38
NC_000012.11:g.102190514T>A , CM000674.1:g.102190514T>A	GRCh37
NC_000012.10:g.100714645T>A	NCBI36
NG_021243.1:g.39132A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.144A>T MANE Select	ENSP00000299314.7:p.Gln48His
ENST00000647144.1:n.264A>T
ENST00000299314.11:c.144A>T	ENSP00000299314.7:p.Gln48His
ENST00000392919.4:c.144A>T	ENSP00000376651.4:p.Gln48His
ENST00000549165.1:c.144A>T	ENSP00000450413.1:p.Gln48His
ENST00000549940.5:c.144A>T	ENSP00000449150.1:p.Gln48His
NM_024312.4:c.144A>T	NP_077288.2:p.Gln48His
XM_006719593.2:c.144A>T	XP_006719656.1:p.Gln48His
XM_011538731.1:c.63A>T	XP_011537033.1:p.Gln21His
XM_006719593.3:c.144A>T	XP_006719656.1:p.Gln48His
XM_011538731.2:c.63A>T	XP_011537033.1:p.Gln21His
XM_017019961.1:c.-73A>T	XP_016875450.1:n.-73A>T
XM_017019962.2:c.-1207A>T	XP_016875451.1:n.-1207A>T
NM_024312.5:c.144A>T MANE Select	NP_077288.2:p.Gln48His