Canonical Allele Identifier: CA2840802086
Gene: ANKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871457C>A , CM000667.2:g.14871457C>A GRCh38
NC_000005.9:g.14871566C>A , CM000667.1:g.14871566C>A GRCh37
NC_000005.8:g.14924566C>A NCBI36
NG_008273.1:g.5322G>T
NG_008273.2:g.5329G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-10G>T MANE Select ENSP00000284268.6:n.-10G>T
ENST00000284268.6:c.-10G>T ENSP00000284268.6:n.-10G>T
ENST00000505140.1:c.-10G>T ENSP00000426332.1:n.-10G>T
ENST00000513115.1:n.16G>T
NM_054027.4:c.-10G>T NP_473368.1:n.-10G>T
XM_011514067.1:c.-10G>T XP_011512369.1:n.-10G>T
NM_054027.5:c.-10G>T NP_473368.1:n.-10G>T
NM_054027.6:c.-10G>T MANE Select NP_473368.1:n.-10G>T