Canonical Allele Identifier: CA2807641413
Gene: FA2H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713371G>C , CM000678.2:g.74713371G>C GRCh38
NC_000016.9:g.74747269G>C , CM000678.1:g.74747269G>C GRCh37
NC_000016.8:g.73304770G>C NCBI36
NG_017070.1:g.66461C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*819C>G MANE Select ENSP00000219368.3:n.*819C>G
ENST00000219368.7:c.*819C>G ENSP00000219368.3:n.*819C>G
ENST00000562145.1:n.1659C>G
NM_024306.4:c.*819C>G NP_077282.3:n.*819C>G
XM_011523319.1:c.*819C>G XP_011521621.1:n.*819C>G
XM_011523319.2:c.*819C>G XP_011521621.1:n.*819C>G
NM_024306.5:c.*819C>G MANE Select NP_077282.3:n.*819C>G