Canonical Allele Identifier: CA114719955
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs955140904
gnomAD v2: 5-14716682-G-C
gnomAD v3: 5-14716573-G-C
gnomAD v4: 5-14716573-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716573G>C , CM000667.2:g.14716573G>C GRCh38
NC_000005.9:g.14716682G>C , CM000667.1:g.14716682G>C GRCh37
NC_000005.8:g.14769682G>C NCBI36
NG_008273.1:g.160206C>G
NG_008273.2:g.160213C>G
NG_051625.1:g.60780G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+133C>G MANE Select ENSP00000284268.6:n.1141+133C>G
ENST00000284268.6:c.1141+133C>G ENSP00000284268.6:n.1141+133C>G
ENST00000502585.1:n.383+133C>G
NM_054027.4:c.1141+133C>G NP_473368.1:n.1141+133C>G
NM_054027.5:c.1141+133C>G NP_473368.1:n.1141+133C>G
XM_017009644.2:c.1057+133C>G XP_016865133.1:n.1057+133C>G
NM_054027.6:c.1141+133C>G MANE Select NP_473368.1:n.1141+133C>G