Canonical Allele Identifier: CA2673314892
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871617-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871617T>G , CM000667.2:g.14871617T>G GRCh38
NC_000005.9:g.14871726T>G , CM000667.1:g.14871726T>G GRCh37
NC_000005.8:g.14924726T>G NCBI36
NG_008273.1:g.5162A>C
NG_008273.2:g.5169A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-170A>C MANE Select ENSP00000284268.6:n.-170A>C
ENST00000284268.6:c.-170A>C ENSP00000284268.6:n.-170A>C
ENST00000505140.1:c.-170A>C ENSP00000426332.1:n.-170A>C
NM_054027.4:c.-170A>C NP_473368.1:n.-170A>C
XM_011514067.1:c.-170A>C XP_011512369.1:n.-170A>C
NM_054027.5:c.-170A>C NP_473368.1:n.-170A>C
NM_054027.6:c.-170A>C MANE Select NP_473368.1:n.-170A>C