Canonical Allele Identifier: CA359245236

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14716818G>T (hg19) ; chr5:g.14716709G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716709G>T , CM000667.2:g.14716709G>T	GRCh38
NC_000005.9:g.14716818G>T , CM000667.1:g.14716818G>T	GRCh37
NC_000005.8:g.14769818G>T	NCBI36
NG_008273.1:g.160070C>A
NG_008273.2:g.160077C>A
NG_051625.1:g.60916G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1138C>A MANE Select	ENSP00000284268.6:p.Pro380Thr
ENST00000284268.6:c.1138C>A	ENSP00000284268.6:p.Pro380Thr
ENST00000502585.1:n.380C>A
NM_054027.4:c.1138C>A	NP_473368.1:p.Pro380Thr
NM_054027.5:c.1138C>A	NP_473368.1:p.Pro380Thr
XM_017009644.2:c.1054C>A	XP_016865133.1:p.Pro352Thr
NM_054027.6:c.1138C>A MANE Select	NP_473368.1:p.Pro380Thr