Canonical Allele Identifier: CA805330797

Gene: ANKH

Linked Data

• dbSNP Id: rs1398957595
• gnomAD v3: 5-14741759-A-G
• gnomAD v4: 5-14741759-A-G
• MyVariant Identifiers: chr5:g.14741868A>G (hg19) ; chr5:g.14741759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741759A>G , CM000667.2:g.14741759A>G	GRCh38
NC_000005.9:g.14741868A>G , CM000667.1:g.14741868A>G	GRCh37
NC_000005.8:g.14794868A>G	NCBI36
NG_008273.1:g.135020T>C
NG_008273.2:g.135027T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1011+68T>C MANE Select	ENSP00000284268.6:n.1011+68T>C
ENST00000284268.6:c.1011+68T>C	ENSP00000284268.6:n.1011+68T>C
ENST00000503939.5:n.523+68T>C
ENST00000515517.1:n.313T>C
NM_054027.4:c.1011+68T>C	NP_473368.1:n.1011+68T>C
XM_011514067.1:c.1011+68T>C	XP_011512369.1:n.1011+68T>C
NM_054027.5:c.1011+68T>C	NP_473368.1:n.1011+68T>C
XM_017009644.2:c.927+68T>C	XP_016865133.1:n.927+68T>C
NM_054027.6:c.1011+68T>C MANE Select	NP_473368.1:n.1011+68T>C