Canonical Allele Identifier: CA345233361

Gene: GNPAT

Linked Data

• dbSNP Id: rs1234208770
• gnomAD v2: 1-231401132-C-T
• gnomAD v3: 1-231265386-C-T
• gnomAD v4: 1-231265386-C-T
• MyVariant Identifiers: chr1:g.231401132C>T (hg19) ; chr1:g.231265386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265386C>T , CM000663.2:g.231265386C>T	GRCh38
NC_000001.10:g.231401132C>T , CM000663.1:g.231401132C>T	GRCh37
NC_000001.9:g.229467755C>T	NCBI36
NG_008240.1:g.29214C>T
NG_008240.2:g.29214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.662C>T MANE Select	ENSP00000355607.4:p.Ala221Val
ENST00000644483.1:c.*348C>T	ENSP00000496537.1:n.*348C>T
ENST00000366647.8:c.662C>T	ENSP00000355607.4:p.Ala221Val
ENST00000416000.1:c.632C>T	ENSP00000411640.1:p.Ala211Val
ENST00000436239.5:c.479C>T	ENSP00000402811.1:p.Ala160Val
NM_001316350.1:c.479C>T	NP_001303279.1:p.Ala160Val
NM_014236.3:c.662C>T	NP_055051.1:p.Ala221Val
XM_005273313.3:c.659C>T	XP_005273370.1:p.Ala220Val
XM_011544303.1:c.335C>T	XP_011542605.1:p.Ala112Val
XM_011544304.1:c.335C>T	XP_011542606.1:p.Ala112Val
XM_005273313.4:c.659C>T	XP_005273370.1:p.Ala220Val
XM_011544303.3:c.335C>T	XP_011542605.1:p.Ala112Val
XM_011544304.2:c.335C>T	XP_011542606.1:p.Ala112Val
NM_014236.4:c.662C>T MANE Select	NP_055051.1:p.Ala221Val
NM_001316350.2:c.479C>T	NP_001303279.1:p.Ala160Val