Canonical Allele Identifier: CA359245396
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14716783-T-C
MyVariant Identifiers: chr5:g.14716892T>C (hg19) chr5:g.14716783T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716783T>C , CM000667.2:g.14716783T>C GRCh38
NC_000005.9:g.14716892T>C , CM000667.1:g.14716892T>C GRCh37
NC_000005.8:g.14769892T>C NCBI36
NG_008273.1:g.159996A>G
NG_008273.2:g.160003A>G
NG_051625.1:g.60990T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1064A>G MANE Select ENSP00000284268.6:p.Asp355Gly
ENST00000284268.6:c.1064A>G ENSP00000284268.6:p.Asp355Gly
ENST00000502585.1:n.306A>G
NM_054027.4:c.1064A>G NP_473368.1:p.Asp355Gly
NM_054027.5:c.1064A>G NP_473368.1:p.Asp355Gly
XM_017009644.2:c.980A>G XP_016865133.1:p.Asp327Gly
NM_054027.6:c.1064A>G MANE Select NP_473368.1:p.Asp355Gly
Search 100 bp 5'
Search 100 bp 3'