Canonical Allele Identifier: CA386487059

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102224428T>G (hg19) ; chr12:g.101830650T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830650T>G , CM000674.2:g.101830650T>G	GRCh38
NC_000012.11:g.102224428T>G , CM000674.1:g.102224428T>G	GRCh37
NC_000012.10:g.100748559T>G	NCBI36
NG_021243.1:g.5218A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.26A>C MANE Select	ENSP00000299314.7:p.Gln9Pro
ENST00000647144.1:n.14A>C
ENST00000299314.11:c.26A>C	ENSP00000299314.7:p.Gln9Pro
ENST00000392919.4:c.26A>C	ENSP00000376651.4:p.Gln9Pro
ENST00000549165.1:c.26A>C	ENSP00000450413.1:p.Gln9Pro
ENST00000549940.5:c.26A>C	ENSP00000449150.1:p.Gln9Pro
NM_024312.4:c.26A>C	NP_077288.2:p.Gln9Pro
XM_006719593.2:c.26A>C	XP_006719656.1:p.Gln9Pro
XM_006719593.3:c.26A>C	XP_006719656.1:p.Gln9Pro
XM_017019961.1:c.-124A>C	XP_016875450.1:n.-124A>C
XM_017019962.2:c.-1325A>C	XP_016875451.1:n.-1325A>C
NM_024312.5:c.26A>C MANE Select	NP_077288.2:p.Gln9Pro