Canonical Allele Identifier: CA386305593

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101790058C>G , CM000674.2:g.101790058C>G	GRCh38
NC_000012.11:g.102183836C>G , CM000674.1:g.102183836C>G	GRCh37
NC_000012.10:g.100707967C>G	NCBI36
NG_021243.1:g.45810G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.204-1G>C MANE Select	NP_077288.2:n.204-1G>C
ENST00000299314.12:c.204-1G>C MANE Select	ENSP00000299314.7:n.204-1G>C
NM_024312.4:c.204-1G>C	NP_077288.2:n.204-1G>C
ENST00000299314.11:c.204-1G>C	ENSP00000299314.7:n.204-1G>C
ENST00000549940.5:c.204-1G>C	ENSP00000449150.1:n.204-1G>C
XM_006719593.2:c.204-1G>C	XP_006719656.1:n.204-1G>C
XM_006719593.3:c.204-1G>C	XP_006719656.1:n.204-1G>C
XM_011538731.1:c.123-1G>C	XP_011537033.1:n.123-1G>C
XM_011538731.2:c.123-1G>C	XP_011537033.1:n.123-1G>C
XM_017019961.1:c.-13-1G>C	XP_016875450.1:n.-13-1G>C
XM_017019962.2:c.-1147-1G>C	XP_016875451.1:n.-1147-1G>C