Canonical Allele Identifier: CA1528892396
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741749T= , CM000667.2:g.14741749T= GRCh38
NC_000005.9:g.14741858T= , CM000667.1:g.14741858T= GRCh37
NC_000005.8:g.14794858T= NCBI36
NG_008273.1:g.135030A=
NG_008273.2:g.135037A=

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1011+78A= MANE Select ENSP00000284268.6:n.1011+78A=
ENST00000284268.6:c.1011+78A= ENSP00000284268.6:n.1011+78A=
ENST00000503939.5:n.523+78A=
ENST00000515517.1:n.323A=
NM_054027.4:c.1011+78A= NP_473368.1:n.1011+78A=
XM_011514067.1:c.1011+78A= XP_011512369.1:n.1011+78A=
NM_054027.5:c.1011+78A= NP_473368.1:n.1011+78A=
XM_017009644.2:c.927+78A= XP_016865133.1:n.927+78A=
NM_054027.6:c.1011+78A= MANE Select NP_473368.1:n.1011+78A=