Canonical Allele Identifier: CA443295579
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716849A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716740A>G , CM000667.2:g.14716740A>G GRCh38
NC_000005.9:g.14716849A>G , CM000667.1:g.14716849A>G GRCh37
NC_000005.8:g.14769849A>G NCBI36
NG_008273.1:g.160039T>C
NG_008273.2:g.160046T>C
NG_051625.1:g.60947A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1107T>C MANE Select ENSP00000284268.6:p.Val369=
ENST00000284268.6:c.1107T>C ENSP00000284268.6:p.Val369=
ENST00000502585.1:n.349T>C
NM_054027.4:c.1107T>C NP_473368.1:p.Val369=
NM_054027.5:c.1107T>C NP_473368.1:p.Val369=
XM_017009644.2:c.1023T>C XP_016865133.1:p.Val341=
NM_054027.6:c.1107T>C MANE Select NP_473368.1:p.Val369=