Canonical Allele Identifier: CA359245344

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14716868A>T (hg19) ; chr5:g.14716759A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716759A>T , CM000667.2:g.14716759A>T	GRCh38
NC_000005.9:g.14716868A>T , CM000667.1:g.14716868A>T	GRCh37
NC_000005.8:g.14769868A>T	NCBI36
NG_008273.1:g.160020T>A
NG_008273.2:g.160027T>A
NG_051625.1:g.60966A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1088T>A MANE Select	ENSP00000284268.6:p.Phe363Tyr
ENST00000284268.6:c.1088T>A	ENSP00000284268.6:p.Phe363Tyr
ENST00000502585.1:n.330T>A
NM_054027.4:c.1088T>A	NP_473368.1:p.Phe363Tyr
NM_054027.5:c.1088T>A	NP_473368.1:p.Phe363Tyr
XM_017009644.2:c.1004T>A	XP_016865133.1:p.Phe335Tyr
NM_054027.6:c.1088T>A MANE Select	NP_473368.1:p.Phe363Tyr