Canonical Allele Identifier: CA558015994
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1323194637
gnomAD v2: 5-14871449-G-A
gnomAD v4: 5-14871340-G-A
COSMIC: COSN1083741
MyVariant Identifiers: chr5:g.14871449G>A (hg19) chr5:g.14871340G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871340G>A , CM000667.2:g.14871340G>A GRCh38
NC_000005.9:g.14871449G>A , CM000667.1:g.14871449G>A GRCh37
NC_000005.8:g.14924449G>A NCBI36
NG_008273.1:g.5439C>T
NG_008273.2:g.5446C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.96+12C>T MANE Select ENSP00000284268.6:n.96+12C>T
ENST00000284268.6:c.96+12C>T ENSP00000284268.6:n.96+12C>T
ENST00000505140.1:c.108C>T ENSP00000426332.1:p.Gly36=
ENST00000513115.1:n.121+12C>T
NM_054027.4:c.96+12C>T NP_473368.1:n.96+12C>T
XM_011514067.1:c.96+12C>T XP_011512369.1:n.96+12C>T
NM_054027.5:c.96+12C>T NP_473368.1:n.96+12C>T
NM_054027.6:c.96+12C>T MANE Select NP_473368.1:n.96+12C>T
Search 100 bp 5'
Search 100 bp 3'