Canonical Allele Identifier: CA443295622
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716921T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716812T>G , CM000667.2:g.14716812T>G GRCh38
NC_000005.9:g.14716921T>G , CM000667.1:g.14716921T>G GRCh37
NC_000005.8:g.14769921T>G NCBI36
NG_008273.1:g.159967A>C
NG_008273.2:g.159974A>C
NG_051625.1:g.61019T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1035A>C MANE Select ENSP00000284268.6:p.Thr345=
ENST00000284268.6:c.1035A>C ENSP00000284268.6:p.Thr345=
ENST00000502585.1:n.277A>C
NM_054027.4:c.1035A>C NP_473368.1:p.Thr345=
NM_054027.5:c.1035A>C NP_473368.1:p.Thr345=
XM_017009644.2:c.951A>C XP_016865133.1:p.Thr317=
NM_054027.6:c.1035A>C MANE Select NP_473368.1:p.Thr345=