Canonical Allele Identifier: CA3208964
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 904041
ClinVar RCV Id: RCV001151715 RCV001151716 RCV002557273
dbSNP Id: rs199961741
ExAC: 5:14741947 G / C
gnomAD v2: 5-14741947-G-C
gnomAD v3: 5-14741838-G-C
gnomAD v4: 5-14741838-G-C
MyVariant Identifiers: chr5:g.14741947G>C (hg19) chr5:g.14741838G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741838G>C , CM000667.2:g.14741838G>C GRCh38
NC_000005.9:g.14741947G>C , CM000667.1:g.14741947G>C GRCh37
NC_000005.8:g.14794947G>C NCBI36
NG_008273.1:g.134941C>G
NG_008273.2:g.134948C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1000C>G MANE Select ENSP00000284268.6:p.Leu334Val
ENST00000284268.6:c.1000C>G ENSP00000284268.6:p.Leu334Val
ENST00000503939.5:n.512C>G
ENST00000515517.1:n.234C>G
NM_054027.4:c.1000C>G NP_473368.1:p.Leu334Val
XM_011514067.1:c.1000C>G XP_011512369.1:p.Leu334Val
NM_054027.5:c.1000C>G NP_473368.1:p.Leu334Val
XM_017009644.2:c.916C>G XP_016865133.1:p.Leu306Val
NM_054027.6:c.1000C>G MANE Select NP_473368.1:p.Leu334Val
Search 100 bp 5'
Search 100 bp 3'