Canonical Allele Identifier: CA576533004

Gene: GNGT1

Linked Data

• dbSNP Id: rs1432532494
• gnomAD v2: 7-93538203-C-T
• gnomAD v3: 7-93908891-C-T
• gnomAD v4: 7-93908891-C-T
• MyVariant Identifiers: chr7:g.93538203C>T (hg19) ; chr7:g.93908891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93908891C>T , CM000669.2:g.93908891C>T	GRCh38
NC_000007.13:g.93538203C>T , CM000669.1:g.93538203C>T	GRCh37
NC_000007.12:g.93376139C>T	NCBI36
NG_051196.1:g.7384C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248572.10:c.97-1899C>T MANE Select	ENSP00000248572.5:n.97-1899C>T
ENST00000248572.9:c.97-1899C>T	ENSP00000248572.5:n.97-1899C>T
ENST00000428834.1:c.97-592C>T	ENSP00000401781.1:n.97-592C>T
ENST00000429473.1:c.97-1899C>T	ENSP00000388777.1:n.97-1899C>T
ENST00000430875.1:c.97-592C>T	ENSP00000395756.1:n.97-592C>T
ENST00000455502.5:c.97-592C>T	ENSP00000395857.1:n.97-592C>T
NM_021955.3:c.97-1899C>T	NP_068774.1:n.97-1899C>T
NM_001329426.1:c.97-1899C>T	NP_001316355.1:n.97-1899C>T
NM_021955.4:c.97-1899C>T	NP_068774.1:n.97-1899C>T
NM_001329426.2:c.97-1899C>T	NP_001316355.1:n.97-1899C>T
NM_021955.5:c.97-1899C>T MANE Select	NP_068774.1:n.97-1899C>T