Canonical Allele Identifier: CA359245546
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14741946A>G (hg19) chr5:g.14741837A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741837A>G , CM000667.2:g.14741837A>G GRCh38
NC_000005.9:g.14741946A>G , CM000667.1:g.14741946A>G GRCh37
NC_000005.8:g.14794946A>G NCBI36
NG_008273.1:g.134942T>C
NG_008273.2:g.134949T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1001T>C MANE Select ENSP00000284268.6:p.Leu334Pro
ENST00000284268.6:c.1001T>C ENSP00000284268.6:p.Leu334Pro
ENST00000503939.5:n.513T>C
ENST00000515517.1:n.235T>C
NM_054027.4:c.1001T>C NP_473368.1:p.Leu334Pro
XM_011514067.1:c.1001T>C XP_011512369.1:p.Leu334Pro
NM_054027.5:c.1001T>C NP_473368.1:p.Leu334Pro
XM_017009644.2:c.917T>C XP_016865133.1:p.Leu306Pro
NM_054027.6:c.1001T>C MANE Select NP_473368.1:p.Leu334Pro
Search 100 bp 5'
Search 100 bp 3'