Canonical Allele Identifier: CA649994363
Gene: ANKH HGNC NCBI

Linked Data

gnomAD v4: 5-14741751-C-A
COSMIC: COSN2075923
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741751C>A , CM000667.2:g.14741751C>A GRCh38
NC_000005.9:g.14741860C>A , CM000667.1:g.14741860C>A GRCh37
NC_000005.8:g.14794860C>A NCBI36
NG_008273.1:g.135028G>T
NG_008273.2:g.135035G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1011+76G>T MANE Select ENSP00000284268.6:n.1011+76G>T
ENST00000284268.6:c.1011+76G>T ENSP00000284268.6:n.1011+76G>T
ENST00000503939.5:n.523+76G>T
ENST00000515517.1:n.321G>T
NM_054027.4:c.1011+76G>T NP_473368.1:n.1011+76G>T
XM_011514067.1:c.1011+76G>T XP_011512369.1:n.1011+76G>T
NM_054027.5:c.1011+76G>T NP_473368.1:n.1011+76G>T
XM_017009644.2:c.927+76G>T XP_016865133.1:n.927+76G>T
NM_054027.6:c.1011+76G>T MANE Select NP_473368.1:n.1011+76G>T
Search 100 bp 5'
Search 100 bp 3'