Canonical Allele Identifier: CA2673310612
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14716934-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716934G>A , CM000667.2:g.14716934G>A GRCh38
NC_000005.9:g.14717043G>A , CM000667.1:g.14717043G>A GRCh37
NC_000005.8:g.14770043G>A NCBI36
NG_008273.1:g.159845C>T
NG_008273.2:g.159852C>T
NG_051625.1:g.61141G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-99C>T MANE Select ENSP00000284268.6:n.1012-99C>T
ENST00000284268.6:c.1012-99C>T ENSP00000284268.6:n.1012-99C>T
ENST00000502585.1:n.155C>T
NM_054027.4:c.1012-99C>T NP_473368.1:n.1012-99C>T
NM_054027.5:c.1012-99C>T NP_473368.1:n.1012-99C>T
XM_017009644.2:c.928-99C>T XP_016865133.1:n.928-99C>T
NM_054027.6:c.1012-99C>T MANE Select NP_473368.1:n.1012-99C>T