Canonical Allele Identifier: CA371640357

Gene: YWHAZ

Linked Data

• ClinVar Variation Id: 448894
• ClinVar RCV Id: RCV000517158 ; RCV000778073 ; RCV001089758 ; RCV001197430 ; RCV003314604 ; RCV003987577
• dbSNP Id: rs1554612377
• MyVariant Identifiers: chr8:g.101932970G>C (hg19) ; chr8:g.100920742G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100920742G>C , CM000670.2:g.100920742G>C	GRCh38
NC_000008.10:g.101932970G>C , CM000670.1:g.101932970G>C	GRCh37
NC_000008.9:g.102002146G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395958.6:c.689C>G MANE Select	ENSP00000379288.2:p.Ser230Trp
ENST00000353245.7:c.689C>G	ENSP00000309503.3:p.Ser230Trp
ENST00000395948.6:c.458C>G	ENSP00000379278.2:p.Ser153Trp
ENST00000395951.7:c.689C>G	ENSP00000379281.3:p.Ser230Trp
ENST00000395953.6:c.689C>G	ENSP00000379283.2:p.Ser230Trp
ENST00000395956.7:c.689C>G	ENSP00000379286.3:p.Ser230Trp
ENST00000395957.6:c.689C>G	ENSP00000379287.2:p.Ser230Trp
ENST00000395958.5:c.689C>G	ENSP00000379288.2:p.Ser230Trp
ENST00000419477.6:c.689C>G	ENSP00000395114.2:p.Ser230Trp
ENST00000457309.2:c.689C>G	ENSP00000398599.1:p.Ser230Trp
ENST00000521309.5:c.329C>G	ENSP00000429623.1:p.Ser110Trp
ENST00000521607.5:c.713C>G	ENSP00000430058.1:p.Ser238Trp
ENST00000522542.5:c.464C>G	ENSP00000430072.1:p.Ser155Trp
ENST00000522819.5:c.329C>G	ENSP00000428775.1:p.Ser110Trp
ENST00000523848.5:c.344C>G	ENSP00000428860.1:p.Ser115Trp
NM_001135699.1:c.689C>G	NP_001129171.1:p.Ser230Trp
NM_001135700.1:c.689C>G	NP_001129172.1:p.Ser230Trp
NM_001135701.1:c.689C>G	NP_001129173.1:p.Ser230Trp
NM_001135702.1:c.689C>G	NP_001129174.1:p.Ser230Trp
NM_003406.3:c.689C>G	NP_003397.1:p.Ser230Trp
NM_145690.2:c.689C>G	NP_663723.1:p.Ser230Trp
XM_005251061.2:c.689C>G	XP_005251118.1:p.Ser230Trp
XM_005251062.2:c.689C>G	XP_005251119.1:p.Ser230Trp
XM_005251063.2:c.689C>G	XP_005251120.1:p.Ser230Trp
XM_011517289.1:c.689C>G	XP_011515591.1:p.Ser230Trp
XM_005251061.3:c.689C>G	XP_005251118.1:p.Ser230Trp
XM_005251063.3:c.689C>G	XP_005251120.1:p.Ser230Trp
XM_017013810.2:c.689C>G	XP_016869299.1:p.Ser230Trp
XM_017013811.1:c.689C>G	XP_016869300.1:p.Ser230Trp
XM_024447266.1:c.689C>G	XP_024303034.1:p.Ser230Trp
NM_145690.3:c.689C>G MANE Select	NP_663723.1:p.Ser230Trp
NM_001135700.2:c.689C>G	NP_001129172.1:p.Ser230Trp
NM_001135701.2:c.689C>G	NP_001129173.1:p.Ser230Trp
NM_001135702.2:c.689C>G	NP_001129174.1:p.Ser230Trp
NM_003406.4:c.689C>G	NP_003397.1:p.Ser230Trp
NM_001135699.2:c.689C>G	NP_001129171.1:p.Ser230Trp