Canonical Allele Identifier: CA359245441

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14716911A>T (hg19) ; chr5:g.14716802A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716802A>T , CM000667.2:g.14716802A>T	GRCh38
NC_000005.9:g.14716911A>T , CM000667.1:g.14716911A>T	GRCh37
NC_000005.8:g.14769911A>T	NCBI36
NG_008273.1:g.159977T>A
NG_008273.2:g.159984T>A
NG_051625.1:g.61009A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1045T>A MANE Select	ENSP00000284268.6:p.Ser349Thr
ENST00000284268.6:c.1045T>A	ENSP00000284268.6:p.Ser349Thr
ENST00000502585.1:n.287T>A
NM_054027.4:c.1045T>A	NP_473368.1:p.Ser349Thr
NM_054027.5:c.1045T>A	NP_473368.1:p.Ser349Thr
XM_017009644.2:c.961T>A	XP_016865133.1:p.Ser321Thr
NM_054027.6:c.1045T>A MANE Select	NP_473368.1:p.Ser349Thr