Canonical Allele Identifier: CA359253988

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769301C>T (hg19) ; chr5:g.14769192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769192C>T , CM000667.2:g.14769192C>T	GRCh38
NC_000005.9:g.14769301C>T , CM000667.1:g.14769301C>T	GRCh37
NC_000005.8:g.14822301C>T	NCBI36
NG_008273.1:g.107587G>A
NG_008273.2:g.107594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.97-1G>A MANE Select	ENSP00000284268.6:n.97-1G>A
ENST00000284268.6:c.97-1G>A	ENSP00000284268.6:n.97-1G>A
ENST00000503389.1:n.103-1G>A
ENST00000513115.1:n.122-1G>A
NM_054027.4:c.97-1G>A	NP_473368.1:n.97-1G>A
XM_011514067.1:c.97-1G>A	XP_011512369.1:n.97-1G>A
NM_054027.5:c.97-1G>A	NP_473368.1:n.97-1G>A
XM_017009644.2:c.13-1G>A	XP_016865133.1:n.13-1G>A
NM_054027.6:c.97-1G>A MANE Select	NP_473368.1:n.97-1G>A