Canonical Allele Identifier: CA2575264932

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761496A>G , CM000674.2:g.101761496A>G	GRCh38
NC_000012.11:g.102155274A>G , CM000674.1:g.102155274A>G	GRCh37
NC_000012.10:g.100679405A>G	NCBI36
NG_021243.1:g.74372T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2915+68T>C MANE Select	ENSP00000299314.7:n.2915+68T>C
ENST00000299314.11:c.2915+68T>C	ENSP00000299314.7:n.2915+68T>C
NM_024312.4:c.2915+68T>C	NP_077288.2:n.2915+68T>C
XM_006719593.2:c.2915+68T>C	XP_006719656.1:n.2915+68T>C
XM_011538731.1:c.2834+68T>C	XP_011537033.1:n.2834+68T>C
XM_006719593.3:c.2915+68T>C	XP_006719656.1:n.2915+68T>C
XM_011538731.2:c.2834+68T>C	XP_011537033.1:n.2834+68T>C
XM_017019961.1:c.2699+68T>C	XP_016875450.1:n.2699+68T>C
XM_017019962.2:c.1688+68T>C	XP_016875451.1:n.1688+68T>C
NM_024312.5:c.2915+68T>C MANE Select	NP_077288.2:n.2915+68T>C