Canonical Allele Identifier: CA386305775

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102190514T>G (hg19) ; chr12:g.101796736T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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