Canonical Allele Identifier: CA557887474

Gene: ANKH

Linked Data

• dbSNP Id: rs774735154
• gnomAD v2: 5-14716803-G-C
• gnomAD v4: 5-14716694-G-C
• MyVariant Identifiers: chr5:g.14716803G>C (hg19) ; chr5:g.14716694G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716694G>C , CM000667.2:g.14716694G>C	GRCh38
NC_000005.9:g.14716803G>C , CM000667.1:g.14716803G>C	GRCh37
NC_000005.8:g.14769803G>C	NCBI36
NG_008273.1:g.160085C>G
NG_008273.2:g.160092C>G
NG_051625.1:g.60901G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+12C>G MANE Select	ENSP00000284268.6:n.1141+12C>G
ENST00000284268.6:c.1141+12C>G	ENSP00000284268.6:n.1141+12C>G
ENST00000502585.1:n.383+12C>G
NM_054027.4:c.1141+12C>G	NP_473368.1:n.1141+12C>G
NM_054027.5:c.1141+12C>G	NP_473368.1:n.1141+12C>G
XM_017009644.2:c.1057+12C>G	XP_016865133.1:n.1057+12C>G
NM_054027.6:c.1141+12C>G MANE Select	NP_473368.1:n.1141+12C>G