Canonical Allele Identifier: CA3209284
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs748520251
gnomAD v2: 5-14871598-G-A
gnomAD v3: 5-14871489-G-A
gnomAD v4: 5-14871489-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871489G>A , CM000667.2:g.14871489G>A GRCh38
NC_000005.9:g.14871598G>A , CM000667.1:g.14871598G>A GRCh37
NC_000005.8:g.14924598G>A NCBI36
NG_008273.1:g.5290C>T
NG_008273.2:g.5297C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-42C>T MANE Select ENSP00000284268.6:n.-42C>T
ENST00000284268.6:c.-42C>T ENSP00000284268.6:n.-42C>T
ENST00000505140.1:c.-42C>T ENSP00000426332.1:n.-42C>T
NM_054027.4:c.-42C>T NP_473368.1:n.-42C>T
XM_011514067.1:c.-42C>T XP_011512369.1:n.-42C>T
NM_054027.5:c.-42C>T NP_473368.1:n.-42C>T
NM_054027.6:c.-42C>T MANE Select NP_473368.1:n.-42C>T