Canonical Allele Identifier: CA114719960
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs762263009
gnomAD v2: 5-14716691-T-C
gnomAD v3: 5-14716582-T-C
gnomAD v4: 5-14716582-T-C
MyVariant Identifiers: chr5:g.14716691T>C (hg19) chr5:g.14716582T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716582T>C , CM000667.2:g.14716582T>C GRCh38
NC_000005.9:g.14716691T>C , CM000667.1:g.14716691T>C GRCh37
NC_000005.8:g.14769691T>C NCBI36
NG_008273.1:g.160197A>G
NG_008273.2:g.160204A>G
NG_051625.1:g.60789T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+124A>G MANE Select ENSP00000284268.6:n.1141+124A>G
ENST00000284268.6:c.1141+124A>G ENSP00000284268.6:n.1141+124A>G
ENST00000502585.1:n.383+124A>G
NM_054027.4:c.1141+124A>G NP_473368.1:n.1141+124A>G
NM_054027.5:c.1141+124A>G NP_473368.1:n.1141+124A>G
XM_017009644.2:c.1057+124A>G XP_016865133.1:n.1057+124A>G
NM_054027.6:c.1141+124A>G MANE Select NP_473368.1:n.1141+124A>G
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