Canonical Allele Identifier: CA1528892390

Gene: ANKH

Linked Data

• dbSNP Id: rs1738362598
• gnomAD v4: 5-14741737-G-A

Genomic Alleles

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

Transcript Alleles

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