Canonical Allele Identifier: CA2673314607
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14871274-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871274A>C , CM000667.2:g.14871274A>C GRCh38
NC_000005.9:g.14871383A>C , CM000667.1:g.14871383A>C GRCh37
NC_000005.8:g.14924383A>C NCBI36
NG_008273.1:g.5505T>G
NG_008273.2:g.5512T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.96+78T>G MANE Select ENSP00000284268.6:n.96+78T>G
ENST00000284268.6:c.96+78T>G ENSP00000284268.6:n.96+78T>G
ENST00000505140.1:c.174T>G ENSP00000426332.1:p.Ser58Arg
ENST00000513115.1:n.121+78T>G
NM_054027.4:c.96+78T>G NP_473368.1:n.96+78T>G
XM_011514067.1:c.96+78T>G XP_011512369.1:n.96+78T>G
NM_054027.5:c.96+78T>G NP_473368.1:n.96+78T>G
NM_054027.6:c.96+78T>G MANE Select NP_473368.1:n.96+78T>G