Canonical Allele Identifier: CA2634286394
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713394-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713394C>T , CM000678.2:g.74713394C>T GRCh38
NC_000016.9:g.74747292C>T , CM000678.1:g.74747292C>T GRCh37
NC_000016.8:g.73304793C>T NCBI36
NG_017070.1:g.66438G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*796G>A MANE Select ENSP00000219368.3:n.*796G>A
ENST00000219368.7:c.*796G>A ENSP00000219368.3:n.*796G>A
ENST00000562145.1:n.1636G>A
NM_024306.4:c.*796G>A NP_077282.3:n.*796G>A
XM_011523319.1:c.*796G>A XP_011521621.1:n.*796G>A
XM_011523319.2:c.*796G>A XP_011521621.1:n.*796G>A
NM_024306.5:c.*796G>A MANE Select NP_077282.3:n.*796G>A
Search 100 bp 5'
Search 100 bp 3'