Canonical Allele Identifier: CA1528892444
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741850C= , CM000667.2:g.14741850C= GRCh38
NC_000005.9:g.14741959C= , CM000667.1:g.14741959C= GRCh37
NC_000005.8:g.14794959C= NCBI36
NG_008273.1:g.134929G=
NG_008273.2:g.134936G=

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.988G= MANE Select ENSP00000284268.6:p.Val330=
ENST00000284268.6:c.988G= ENSP00000284268.6:p.Val330=
ENST00000503939.5:n.500G=
ENST00000515517.1:n.222G=
NM_054027.4:c.988G= NP_473368.1:p.Val330=
XM_011514067.1:c.988G= XP_011512369.1:p.Val330=
NM_054027.5:c.988G= NP_473368.1:p.Val330=
XM_017009644.2:c.904G= XP_016865133.1:p.Val302=
NM_054027.6:c.988G= MANE Select NP_473368.1:p.Val330=