Canonical Allele Identifier: CA732714611

Gene: GNPAT

Linked Data

• dbSNP Id: rs1174861858
• gnomAD v3: 1-231277763-T-C
• gnomAD v4: 1-231277763-T-C
• MyVariant Identifiers: chr1:g.231413509T>C (hg19) ; chr1:g.231277763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231277763T>C , CM000663.2:g.231277763T>C	GRCh38
NC_000001.10:g.231413509T>C , CM000663.1:g.231413509T>C	GRCh37
NC_000001.9:g.229480132T>C	NCBI36
NG_008240.1:g.41591T>C
NG_008240.2:g.41591T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.*221T>C MANE Select	ENSP00000355607.4:n.*221T>C
ENST00000644483.1:c.*1950T>C	ENSP00000496537.1:n.*1950T>C
ENST00000366647.8:c.*221T>C	ENSP00000355607.4:n.*221T>C
NM_001316350.1:c.*221T>C	NP_001303279.1:n.*221T>C
NM_014236.3:c.*221T>C	NP_055051.1:n.*221T>C
XM_005273313.3:c.*221T>C	XP_005273370.1:n.*221T>C
XM_011544303.1:c.*221T>C	XP_011542605.1:n.*221T>C
XM_011544304.1:c.*221T>C	XP_011542606.1:n.*221T>C
XM_005273313.4:c.*221T>C	XP_005273370.1:n.*221T>C
XM_011544303.3:c.*221T>C	XP_011542605.1:n.*221T>C
XM_011544304.2:c.*221T>C	XP_011542606.1:n.*221T>C
NM_014236.4:c.*221T>C MANE Select	NP_055051.1:n.*221T>C
NM_001316350.2:c.*221T>C	NP_001303279.1:n.*221T>C