Canonical Allele Identifier: CA3209185

Gene: ANKH

Linked Data

• ClinVar Variation Id: 351561
• ClinVar RCV Id: RCV000276410 ; RCV000333914 ; RCV000946835
• dbSNP Id: rs74355706
• ExAC: 5:14769139 G / A
• gnomAD v2: 5-14769139-G-A
• gnomAD v3: 5-14769030-G-A
• gnomAD v4: 5-14769030-G-A
• MyVariant Identifiers: chr5:g.14769139G>A (hg19) ; chr5:g.14769030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769030G>A , CM000667.2:g.14769030G>A	GRCh38
NC_000005.9:g.14769139G>A , CM000667.1:g.14769139G>A	GRCh37
NC_000005.8:g.14822139G>A	NCBI36
NG_008273.1:g.107749C>T
NG_008273.2:g.107756C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.258C>T MANE Select	ENSP00000284268.6:p.Ala86=
ENST00000646501.1:c.121C>T
ENST00000284268.6:c.258C>T	ENSP00000284268.6:p.Ala86=
ENST00000503389.1:n.264C>T
ENST00000513115.1:n.283C>T
NM_054027.4:c.258C>T	NP_473368.1:p.Ala86=
XM_011514067.1:c.258C>T	XP_011512369.1:p.Ala86=
NM_054027.5:c.258C>T	NP_473368.1:p.Ala86=
XM_017009644.2:c.174C>T	XP_016865133.1:p.Ala58=
NM_054027.6:c.258C>T MANE Select	NP_473368.1:p.Ala86=