Canonical Allele Identifier: CA2673314698

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871499-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871499T>G , CM000667.2:g.14871499T>G	GRCh38
NC_000005.9:g.14871608T>G , CM000667.1:g.14871608T>G	GRCh37
NC_000005.8:g.14924608T>G	NCBI36
NG_008273.1:g.5280A>C
NG_008273.2:g.5287A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-52A>C MANE Select	ENSP00000284268.6:n.-52A>C
ENST00000284268.6:c.-52A>C	ENSP00000284268.6:n.-52A>C
ENST00000505140.1:c.-52A>C	ENSP00000426332.1:n.-52A>C
NM_054027.4:c.-52A>C	NP_473368.1:n.-52A>C
XM_011514067.1:c.-52A>C	XP_011512369.1:n.-52A>C
NM_054027.5:c.-52A>C	NP_473368.1:n.-52A>C
NM_054027.6:c.-52A>C MANE Select	NP_473368.1:n.-52A>C