Canonical Allele Identifier: CA443295626
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716933C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716824C>G , CM000667.2:g.14716824C>G GRCh38
NC_000005.9:g.14716933C>G , CM000667.1:g.14716933C>G GRCh37
NC_000005.8:g.14769933C>G NCBI36
NG_008273.1:g.159955G>C
NG_008273.2:g.159962G>C
NG_051625.1:g.61031C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1023G>C MANE Select ENSP00000284268.6:p.Val341=
ENST00000284268.6:c.1023G>C ENSP00000284268.6:p.Val341=
ENST00000502585.1:n.265G>C
NM_054027.4:c.1023G>C NP_473368.1:p.Val341=
NM_054027.5:c.1023G>C NP_473368.1:p.Val341=
XM_017009644.2:c.939G>C XP_016865133.1:p.Val313=
NM_054027.6:c.1023G>C MANE Select NP_473368.1:p.Val341=