Canonical Allele Identifier: CA3208924

Gene: ANKH

Linked Data

• dbSNP Id: rs143066052
• ExAC: 5:14716871 G / T
• gnomAD v2: 5-14716871-G-T
• MyVariant Identifiers: chr5:g.14716871G>T (hg19) ; chr5:g.14716762G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716762G>T , CM000667.2:g.14716762G>T	GRCh38
NC_000005.9:g.14716871G>T , CM000667.1:g.14716871G>T	GRCh37
NC_000005.8:g.14769871G>T	NCBI36
NG_008273.1:g.160017C>A
NG_008273.2:g.160024C>A
NG_051625.1:g.60969G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1085C>A MANE Select	ENSP00000284268.6:p.Ala362Asp
ENST00000284268.6:c.1085C>A	ENSP00000284268.6:p.Ala362Asp
ENST00000502585.1:n.327C>A
NM_054027.4:c.1085C>A	NP_473368.1:p.Ala362Asp
NM_054027.5:c.1085C>A	NP_473368.1:p.Ala362Asp
XM_017009644.2:c.1001C>A	XP_016865133.1:p.Ala334Asp
NM_054027.6:c.1085C>A MANE Select	NP_473368.1:p.Ala362Asp