Canonical Allele Identifier: CA114769672
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs373638143
gnomAD v2: 5-14871545-G-T
gnomAD v4: 5-14871436-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871436G>T , CM000667.2:g.14871436G>T GRCh38
NC_000005.9:g.14871545G>T , CM000667.1:g.14871545G>T GRCh37
NC_000005.8:g.14924545G>T NCBI36
NG_008273.1:g.5343C>A
NG_008273.2:g.5350C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.12C>A MANE Select ENSP00000284268.6:p.Phe4Leu
ENST00000284268.6:c.12C>A ENSP00000284268.6:p.Phe4Leu
ENST00000505140.1:c.12C>A ENSP00000426332.1:p.Phe4Leu
ENST00000513115.1:n.37C>A
NM_054027.4:c.12C>A NP_473368.1:p.Phe4Leu
XM_011514067.1:c.12C>A XP_011512369.1:p.Phe4Leu
NM_054027.5:c.12C>A NP_473368.1:p.Phe4Leu
NM_054027.6:c.12C>A MANE Select NP_473368.1:p.Phe4Leu