Canonical Allele Identifier: CA22578549

Gene: ZYG11A

Linked Data

• dbSNP Id: rs75435337
• gnomAD v2: 1-53331123-A-C
• gnomAD v3: 1-52865451-A-C
• gnomAD v4: 1-52865451-A-C
• MyVariant Identifiers: chr1:g.53331123A>C (hg19) ; chr1:g.52865451A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52865451A>C , CM000663.2:g.52865451A>C	GRCh38
NC_000001.10:g.53331123A>C , CM000663.1:g.53331123A>C	GRCh37
NC_000001.9:g.53103711A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371528.2:c.1327-1052A>C MANE Select	ENSP00000360583.1:n.1327-1052A>C
ENST00000371528.1:c.1327-1052A>C	ENSP00000360583.1:n.1327-1052A>C
ENST00000371532.5:c.301-1052A>C	ENSP00000360587.1:n.301-1052A>C
ENST00000612017.4:c.301-1052A>C	ENSP00000482761.1:n.301-1052A>C
NM_001004339.2:c.1327-1052A>C	NP_001004339.2:n.1327-1052A>C
NM_001307931.1:c.301-1052A>C	NP_001294860.1:n.301-1052A>C
XM_011541480.1:c.1327-1052A>C	XP_011539782.1:n.1327-1052A>C
XM_011541481.1:c.1150-1052A>C	XP_011539783.1:n.1150-1052A>C
XM_011541482.1:c.1327-1052A>C	XP_011539784.1:n.1327-1052A>C
XM_011541483.1:c.1327-1052A>C	XP_011539785.1:n.1327-1052A>C
XM_011541484.1:c.1327-1052A>C	XP_011539786.1:n.1327-1052A>C
XM_011541485.1:c.1327-1052A>C	XP_011539787.1:n.1327-1052A>C
XM_011541486.1:c.1327-1052A>C	XP_011539788.1:n.1327-1052A>C
XM_011541487.1:c.1327-1052A>C	XP_011539789.1:n.1327-1052A>C
XM_011541488.1:c.1327-1090A>C	XP_011539790.1:n.1327-1090A>C
XM_011541480.3:c.1327-1052A>C	XP_011539782.1:n.1327-1052A>C
XM_011541481.3:c.1150-1052A>C	XP_011539783.1:n.1150-1052A>C
XM_011541482.3:c.1327-1052A>C	XP_011539784.1:n.1327-1052A>C
XM_011541483.3:c.1327-1052A>C	XP_011539785.1:n.1327-1052A>C
XM_011541487.2:c.1327-1052A>C	XP_011539789.1:n.1327-1052A>C
NM_001004339.3:c.1327-1052A>C MANE Select	NP_001004339.2:n.1327-1052A>C
NM_001307931.2:c.301-1052A>C	NP_001294860.1:n.301-1052A>C