Canonical Allele Identifier: CA359245289
Gene: ANKH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716734C>A , CM000667.2:g.14716734C>A GRCh38
NC_000005.9:g.14716843C>A , CM000667.1:g.14716843C>A GRCh37
NC_000005.8:g.14769843C>A NCBI36
NG_008273.1:g.160045G>T
NG_008273.2:g.160052G>T
NG_051625.1:g.60941C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1113G>T MANE Select ENSP00000284268.6:p.Leu371Phe
ENST00000284268.6:c.1113G>T ENSP00000284268.6:p.Leu371Phe
ENST00000502585.1:n.355G>T
NM_054027.4:c.1113G>T NP_473368.1:p.Leu371Phe
NM_054027.5:c.1113G>T NP_473368.1:p.Leu371Phe
XM_017009644.2:c.1029G>T XP_016865133.1:p.Leu343Phe
NM_054027.6:c.1113G>T MANE Select NP_473368.1:p.Leu371Phe