Canonical Allele Identifier: CA6747012

Gene: GNPTAB

Linked Data

• dbSNP Id: rs750883777
• ExAC: 12:102224349 G / T
• gnomAD v2: 12-102224349-G-T
• gnomAD v3: 12-101830571-G-T
• gnomAD v4: 12-101830571-G-T
• MyVariant Identifiers: chr12:g.102224349G>T (hg19) ; chr12:g.101830571G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830571G>T , CM000674.2:g.101830571G>T	GRCh38
NC_000012.11:g.102224349G>T , CM000674.1:g.102224349G>T	GRCh37
NC_000012.10:g.100748480G>T	NCBI36
NG_021243.1:g.5297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.105C>A MANE Select	ENSP00000299314.7:p.Phe35Leu
ENST00000647144.1:n.93C>A
ENST00000299314.11:c.105C>A	ENSP00000299314.7:p.Phe35Leu
ENST00000392919.4:c.105C>A	ENSP00000376651.4:p.Phe35Leu
ENST00000549165.1:c.105C>A	ENSP00000450413.1:p.Phe35Leu
ENST00000549940.5:c.105C>A	ENSP00000449150.1:p.Phe35Leu
NM_024312.4:c.105C>A	NP_077288.2:p.Phe35Leu
XM_006719593.2:c.105C>A	XP_006719656.1:p.Phe35Leu
XM_006719593.3:c.105C>A	XP_006719656.1:p.Phe35Leu
XM_017019961.1:c.-100+55C>A	XP_016875450.1:n.-100+55C>A
XM_017019962.2:c.-1246C>A	XP_016875451.1:n.-1246C>A
NM_024312.5:c.105C>A MANE Select	NP_077288.2:p.Phe35Leu