Canonical Allele Identifier: CA1528892389
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741737G= , CM000667.2:g.14741737G= GRCh38
NC_000005.9:g.14741846G= , CM000667.1:g.14741846G= GRCh37
NC_000005.8:g.14794846G= NCBI36
NG_008273.1:g.135042C=
NG_008273.2:g.135049C=

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1011+90C= MANE Select ENSP00000284268.6:n.1011+90C=
ENST00000284268.6:c.1011+90C= ENSP00000284268.6:n.1011+90C=
ENST00000503939.5:n.523+90C=
ENST00000515517.1:n.335C=
NM_054027.4:c.1011+90C= NP_473368.1:n.1011+90C=
XM_011514067.1:c.1011+90C= XP_011512369.1:n.1011+90C=
NM_054027.5:c.1011+90C= NP_473368.1:n.1011+90C=
XM_017009644.2:c.927+90C= XP_016865133.1:n.927+90C=
NM_054027.6:c.1011+90C= MANE Select NP_473368.1:n.1011+90C=