Canonical Allele Identifier: CA2673311294

Gene: ANKH

Linked Data

• gnomAD v4: 5-14741737-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741737G>T , CM000667.2:g.14741737G>T	GRCh38
NC_000005.9:g.14741846G>T , CM000667.1:g.14741846G>T	GRCh37
NC_000005.8:g.14794846G>T	NCBI36
NG_008273.1:g.135042C>A
NG_008273.2:g.135049C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1011+90C>A MANE Select	ENSP00000284268.6:n.1011+90C>A
ENST00000284268.6:c.1011+90C>A	ENSP00000284268.6:n.1011+90C>A
ENST00000503939.5:n.523+90C>A
ENST00000515517.1:n.335C>A
NM_054027.4:c.1011+90C>A	NP_473368.1:n.1011+90C>A
XM_011514067.1:c.1011+90C>A	XP_011512369.1:n.1011+90C>A
NM_054027.5:c.1011+90C>A	NP_473368.1:n.1011+90C>A
XM_017009644.2:c.927+90C>A	XP_016865133.1:n.927+90C>A
NM_054027.6:c.1011+90C>A MANE Select	NP_473368.1:n.1011+90C>A