Canonical Allele Identifier: CA443289789
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14769247G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14769138G>T , CM000667.2:g.14769138G>T GRCh38
NC_000005.9:g.14769247G>T , CM000667.1:g.14769247G>T GRCh37
NC_000005.8:g.14822247G>T NCBI36
NG_008273.1:g.107641C>A
NG_008273.2:g.107648C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.150C>A MANE Select ENSP00000284268.6:p.Ala50=
ENST00000646501.1:c.13C>A
ENST00000284268.6:c.150C>A ENSP00000284268.6:p.Ala50=
ENST00000503389.1:n.156C>A
ENST00000513115.1:n.175C>A
NM_054027.4:c.150C>A NP_473368.1:p.Ala50=
XM_011514067.1:c.150C>A XP_011512369.1:p.Ala50=
NM_054027.5:c.150C>A NP_473368.1:p.Ala50=
XM_017009644.2:c.66C>A XP_016865133.1:p.Ala22=
NM_054027.6:c.150C>A MANE Select NP_473368.1:p.Ala50=