Canonical Allele Identifier: CA2673310633
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14716952-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716952G>T , CM000667.2:g.14716952G>T GRCh38
NC_000005.9:g.14717061G>T , CM000667.1:g.14717061G>T GRCh37
NC_000005.8:g.14770061G>T NCBI36
NG_008273.1:g.159827C>A
NG_008273.2:g.159834C>A
NG_051625.1:g.61159G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-117C>A MANE Select ENSP00000284268.6:n.1012-117C>A
ENST00000284268.6:c.1012-117C>A ENSP00000284268.6:n.1012-117C>A
ENST00000502585.1:n.137C>A
NM_054027.4:c.1012-117C>A NP_473368.1:n.1012-117C>A
NM_054027.5:c.1012-117C>A NP_473368.1:n.1012-117C>A
XM_017009644.2:c.928-117C>A XP_016865133.1:n.928-117C>A
NM_054027.6:c.1012-117C>A MANE Select NP_473368.1:n.1012-117C>A
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