Canonical Allele Identifier: CA14414895

Gene: YWHAE

Linked Data

• dbSNP Id: rs2131431
• gnomAD v2: 17-1294895-A-C
• gnomAD v3: 17-1391601-A-C
• gnomAD v4: 17-1391601-A-C
• MyVariant Identifiers: chr17:g.1294895A>C (hg19) ; chr17:g.1391601A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1391601A>C , CM000679.2:g.1391601A>C	GRCh38
NC_000017.10:g.1294895A>C , CM000679.1:g.1294895A>C	GRCh37
NC_000017.9:g.1241645A>C	NCBI36
NG_009233.1:g.13662T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264335.13:c.64+8446T>G MANE Select	ENSP00000264335.8:n.64+8446T>G
ENST00000264335.12:c.64+8446T>G	ENSP00000264335.8:n.64+8446T>G
ENST00000469398.5:n.105+8446T>G
ENST00000486241.1:n.163+8446T>G
ENST00000489287.1:n.154+8446T>G
ENST00000571732.5:c.-36+8446T>G	ENSP00000461762.1:n.-36+8446T>G
ENST00000573026.1:c.64+8446T>G	ENSP00000458386.1:n.64+8446T>G
ENST00000573196.5:c.64+8446T>G	ENSP00000461766.1:n.64+8446T>G
ENST00000575977.1:c.64+8446T>G	ENSP00000460712.1:n.64+8446T>G
NM_006761.4:c.64+8446T>G	NP_006752.1:n.64+8446T>G
NR_024058.1:n.216+8446T>G
XM_005256784.2:c.64+8446T>G	XP_005256841.1:n.64+8446T>G
XM_005256784.4:c.64+8446T>G	XP_005256841.1:n.64+8446T>G
XM_017025005.2:c.-36+8446T>G	XP_016880494.1:n.-36+8446T>G
NM_006761.5:c.64+8446T>G MANE Select	NP_006752.1:n.64+8446T>G
NR_024058.2:n.176+8446T>G