Canonical Allele Identifier: CA557887464

Gene: ANKH

Linked Data

• dbSNP Id: rs1163438578
• gnomAD v2: 5-14716767-A-G
• gnomAD v4: 5-14716658-A-G
• MyVariant Identifiers: chr5:g.14716767A>G (hg19) ; chr5:g.14716658A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716658A>G , CM000667.2:g.14716658A>G	GRCh38
NC_000005.9:g.14716767A>G , CM000667.1:g.14716767A>G	GRCh37
NC_000005.8:g.14769767A>G	NCBI36
NG_008273.1:g.160121T>C
NG_008273.2:g.160128T>C
NG_051625.1:g.60865A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+48T>C MANE Select	ENSP00000284268.6:n.1141+48T>C
ENST00000284268.6:c.1141+48T>C	ENSP00000284268.6:n.1141+48T>C
ENST00000502585.1:n.383+48T>C
NM_054027.4:c.1141+48T>C	NP_473368.1:n.1141+48T>C
NM_054027.5:c.1141+48T>C	NP_473368.1:n.1141+48T>C
XM_017009644.2:c.1057+48T>C	XP_016865133.1:n.1057+48T>C
NM_054027.6:c.1141+48T>C MANE Select	NP_473368.1:n.1141+48T>C