Canonical Allele Identifier: CA3208910

Gene: ANKH

Linked Data

• dbSNP Id: rs779593990
• ExAC: 5:14716765 T / C
• gnomAD v2: 5-14716765-T-C
• gnomAD v3: 5-14716656-T-C
• gnomAD v4: 5-14716656-T-C
• MyVariant Identifiers: chr5:g.14716765T>C (hg19) ; chr5:g.14716656T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716656T>C , CM000667.2:g.14716656T>C	GRCh38
NC_000005.9:g.14716765T>C , CM000667.1:g.14716765T>C	GRCh37
NC_000005.8:g.14769765T>C	NCBI36
NG_008273.1:g.160123A>G
NG_008273.2:g.160130A>G
NG_051625.1:g.60863T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1141+50A>G MANE Select	ENSP00000284268.6:n.1141+50A>G
ENST00000284268.6:c.1141+50A>G	ENSP00000284268.6:n.1141+50A>G
ENST00000502585.1:n.383+50A>G
NM_054027.4:c.1141+50A>G	NP_473368.1:n.1141+50A>G
NM_054027.5:c.1141+50A>G	NP_473368.1:n.1141+50A>G
XM_017009644.2:c.1057+50A>G	XP_016865133.1:n.1057+50A>G
NM_054027.6:c.1141+50A>G MANE Select	NP_473368.1:n.1141+50A>G