Canonical Allele Identifier: CA359245464
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716814T>G , CM000667.2:g.14716814T>G GRCh38
NC_000005.9:g.14716923T>G , CM000667.1:g.14716923T>G GRCh37
NC_000005.8:g.14769923T>G NCBI36
NG_008273.1:g.159965A>C
NG_008273.2:g.159972A>C
NG_051625.1:g.61021T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1033A>C MANE Select ENSP00000284268.6:p.Thr345Pro
ENST00000284268.6:c.1033A>C ENSP00000284268.6:p.Thr345Pro
ENST00000502585.1:n.275A>C
NM_054027.4:c.1033A>C NP_473368.1:p.Thr345Pro
NM_054027.5:c.1033A>C NP_473368.1:p.Thr345Pro
XM_017009644.2:c.949A>C XP_016865133.1:p.Thr317Pro
NM_054027.6:c.1033A>C MANE Select NP_473368.1:p.Thr345Pro