Canonical Allele Identifier: CA2578273526

Gene: ANKH

Linked Data

• gnomAD v4: 5-14871505-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871505G>T , CM000667.2:g.14871505G>T	GRCh38
NC_000005.9:g.14871614G>T , CM000667.1:g.14871614G>T	GRCh37
NC_000005.8:g.14924614G>T	NCBI36
NG_008273.1:g.5274C>A
NG_008273.2:g.5281C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-58C>A MANE Select	ENSP00000284268.6:n.-58C>A
ENST00000284268.6:c.-58C>A	ENSP00000284268.6:n.-58C>A
ENST00000505140.1:c.-58C>A	ENSP00000426332.1:n.-58C>A
NM_054027.4:c.-58C>A	NP_473368.1:n.-58C>A
XM_011514067.1:c.-58C>A	XP_011512369.1:n.-58C>A
NM_054027.5:c.-58C>A	NP_473368.1:n.-58C>A
NM_054027.6:c.-58C>A MANE Select	NP_473368.1:n.-58C>A