Canonical Allele Identifier: CA38941813

Gene: GNPAT

Linked Data

• dbSNP Id: rs952647133
• MyVariant Identifiers: chr1:g.231413496C>T (hg19) ; chr1:g.231277750C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231277750C>T , CM000663.2:g.231277750C>T	GRCh38
NC_000001.10:g.231413496C>T , CM000663.1:g.231413496C>T	GRCh37
NC_000001.9:g.229480119C>T	NCBI36
NG_008240.1:g.41578C>T
NG_008240.2:g.41578C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.*208C>T MANE Select	ENSP00000355607.4:n.*208C>T
ENST00000644483.1:c.*1937C>T	ENSP00000496537.1:n.*1937C>T
ENST00000366647.8:c.*208C>T	ENSP00000355607.4:n.*208C>T
NM_001316350.1:c.*208C>T	NP_001303279.1:n.*208C>T
NM_014236.3:c.*208C>T	NP_055051.1:n.*208C>T
XM_005273313.3:c.*208C>T	XP_005273370.1:n.*208C>T
XM_011544303.1:c.*208C>T	XP_011542605.1:n.*208C>T
XM_011544304.1:c.*208C>T	XP_011542606.1:n.*208C>T
XM_005273313.4:c.*208C>T	XP_005273370.1:n.*208C>T
XM_011544303.3:c.*208C>T	XP_011542605.1:n.*208C>T
XM_011544304.2:c.*208C>T	XP_011542606.1:n.*208C>T
NM_014236.4:c.*208C>T MANE Select	NP_055051.1:n.*208C>T
NM_001316350.2:c.*208C>T	NP_001303279.1:n.*208C>T